The ESHG awards prizes of EUR 500.- for outstanding research by young scientists presented as a spoken contribution at the conference. All young scientists submitting spoken presentations were encouraged to apply. The nominee is the first author (i.e. presenting author) of the presented abstract, pre- or post-doctoral (not more than 4 years after PhD/MD).
Awards are given in the following categories:
– Young Investigator Awards for Outstanding Science in oral presentations
– Isabelle Oberlé Award for the best talk in research on Genetics of Intellectual Disability
– Lodewijk Sandkuijl Award for the best talk in Statistical Genetics
– Vienna Medical Academy Award for the best talk in Translational Medicine
– Mia Neri Award for the best talk in Cancer Research
– ESHG Poster Awards in best basic and best clinical research
We have asked the candidates to answer the following questions:
- Q1: Date and city of birth
- Q2: What is your current position?
- Q3: Why did you choose a career in genetics?
- Q4: What is so interesting about the research you are presenting at ESHG 2019?
These authors will present on Saturday, June 15 at 16:30 hrs
Q1:
31 July 1985, Tartu, Estonia
Q2:
I’m a Research Fellow in Reproductive Genomics at the Institute of Genomics, University of Tartu
Q3:
To me, science and genetics resemble a good crime novel with its puzzles and the constant chase for answers. My current field of research lies at the intersection of two topics that really interest me – reproductive medicine and genomics. So it’s an excellent mixture of solving puzzles and finding answers to some of the most basic questions in biology – what in our genomes controls our fertility and increases susceptibility to fertility problems.
Q4:
Our study is the first large-scale study on the genetics of miscarriage, the most common early pregnancy complication. We estimated the heritability of miscarriage, identified associated variants and used biobank-scale data to find other associated health outcomes. This is a huge step forward, as until now the field has been cluttered with small-scale candidate gene association studies. Our transethnic collaborative effort is an important study on a thus far understudied trait, and given the fact that miscarriage affects millions of women and couples worldwide, is of interest to both the scientific community and the general public.
Triin will speak about Insights from the largest genetic study of sporadic and recurrent miscarriage in the session ‘What’s New?’ Highlight Session at 16:30 hrs.
31 July 1985, Tartu, Estonia
Q2:
I’m a Research Fellow in Reproductive Genomics at the Institute of Genomics, University of Tartu
Q3:
To me, science and genetics resemble a good crime novel with its puzzles and the constant chase for answers. My current field of research lies at the intersection of two topics that really interest me – reproductive medicine and genomics. So it’s an excellent mixture of solving puzzles and finding answers to some of the most basic questions in biology – what in our genomes controls our fertility and increases susceptibility to fertility problems.
Q4:
Our study is the first large-scale study on the genetics of miscarriage, the most common early pregnancy complication. We estimated the heritability of miscarriage, identified associated variants and used biobank-scale data to find other associated health outcomes. This is a huge step forward, as until now the field has been cluttered with small-scale candidate gene association studies. Our transethnic collaborative effort is an important study on a thus far understudied trait, and given the fact that miscarriage affects millions of women and couples worldwide, is of interest to both the scientific community and the general public.
Triin will speak about Insights from the largest genetic study of sporadic and recurrent miscarriage in the session ‘What’s New?’ Highlight Session at 16:30 hrs.
Q1:
London
Q2:
PhD student at Wellcome Sanger Institute, UK
Q3:
Genetic research currently has an exciting balance of producing large amounts of data and having an abundance of interesting biological questions that this data can be effectively used to explore. I chose to do a PhD in genetics because of this balance, I hoped I would be able to use my primarily quantitative skills to attempt to understand some more of this biology and to work in a field whose ultimate goal is to improve human health.
Q4:
We have combined data from the Deciphering Developmental Disorders Study, GeneDX and Radbound University Medical Centre to create a dataset of ~31,000 families with children with severe developmental disorders. This is the largest dataset of its kind and using a novel method to test for the enrichment of de novo mutations in this data we have been able to identify ~50 novel genes associated with developmental disorders. We have also been able to start to answer more questions about the genetic architecture developmental disorders. In particular we address how the novel genes we have identified differ from the DD genes known in the literature and why the remaining genes are still undiscovered despite our large sample size.
London
Q2:
PhD student at Wellcome Sanger Institute, UK
Q3:
Genetic research currently has an exciting balance of producing large amounts of data and having an abundance of interesting biological questions that this data can be effectively used to explore. I chose to do a PhD in genetics because of this balance, I hoped I would be able to use my primarily quantitative skills to attempt to understand some more of this biology and to work in a field whose ultimate goal is to improve human health.
Q4:
We have combined data from the Deciphering Developmental Disorders Study, GeneDX and Radbound University Medical Centre to create a dataset of ~31,000 families with children with severe developmental disorders. This is the largest dataset of its kind and using a novel method to test for the enrichment of de novo mutations in this data we have been able to identify ~50 novel genes associated with developmental disorders. We have also been able to start to answer more questions about the genetic architecture developmental disorders. In particular we address how the novel genes we have identified differ from the DD genes known in the literature and why the remaining genes are still undiscovered despite our large sample size.
Joanna will speak about Discovery and characterisation of 49 novel genetic disorders from analysing de novo mutations in 31,058 parent child trio exomes in the session ‘What’s New?’ Highlight Session at 16:30 hrs.
Q1:
Date of birth: October 9, 1985
City of birth: Boumerdès, Algeria
Q2:
Postdoctoral Research Fellow in the Development and Disease Group at the Max Planck Institute for Molecular Genetics, Berlin, Germany.
Q3:
My passion for human genetics specifically begun very early when I was still a pharmacy student at the University of Algiers in Algeria. This passion arises from my curiosity to understand the molecular mechanisms underlying human Mendelian diseases with a particular interest in neurological disorders. It is also this passion that pushed me to follow a career in this research field.
Q4:
The highlight of our research work is the first description of an lncRNA as a molecular etiology for a human developmental disorder. This is a breakthrough in the field of human genetics. Indeed, regarding the most recent NONCODE database source, over 100.000 lncRNAs have been annotated in the human genome and the main question that arises from the work I will be presenting at the conference is how many of these lncRNAs are disease-causing?. The challenge for the future is weather we will be able to solve so far unsolved cases by applying state-of- the-art functional studies to identify pathogenic mutations in this “non-coding” part of the genome.
Lila will speak about Loss of MAENLI, a newly characterized lncRNA, results in limb specific inactivation of EN1 and a dorsal dimelia limb phenotype in the session ‘What’s New?’ Highlight Session at 16:30 hrs.
Date of birth: October 9, 1985
City of birth: Boumerdès, Algeria
Q2:
Postdoctoral Research Fellow in the Development and Disease Group at the Max Planck Institute for Molecular Genetics, Berlin, Germany.
Q3:
My passion for human genetics specifically begun very early when I was still a pharmacy student at the University of Algiers in Algeria. This passion arises from my curiosity to understand the molecular mechanisms underlying human Mendelian diseases with a particular interest in neurological disorders. It is also this passion that pushed me to follow a career in this research field.
Q4:
The highlight of our research work is the first description of an lncRNA as a molecular etiology for a human developmental disorder. This is a breakthrough in the field of human genetics. Indeed, regarding the most recent NONCODE database source, over 100.000 lncRNAs have been annotated in the human genome and the main question that arises from the work I will be presenting at the conference is how many of these lncRNAs are disease-causing?. The challenge for the future is weather we will be able to solve so far unsolved cases by applying state-of- the-art functional studies to identify pathogenic mutations in this “non-coding” part of the genome.
Lila will speak about Loss of MAENLI, a newly characterized lncRNA, results in limb specific inactivation of EN1 and a dorsal dimelia limb phenotype in the session ‘What’s New?’ Highlight Session at 16:30 hrs.
These authors will present on Saturday, June 15 at 18:30 hrs
Q1:
March 1987, Tokyo, JAPAN
Q2:
Instructor, Center for Medical Genetics, Keio University School of Medicine
Q3:
During my career as a pediatrician, I have provided care to several unforgettable patients with genetic disorders and their families who were living active lives despite their difficult health and social status. Hoping to alleviate their lives through better care, I decided to choose medical genetics as my specialty. Obviously, the field awaits fundamental progress in regard to both diagnosis and treatment. I wish to devote my future professional career to improving clinical practice in medical genetics, and to conducting basic research in human genetics as a means of tackling whatever issues need to be resolved to improve patient care.
Q4:
We are faced with the inconvenient truth that the diagnostic success rate of genome analysis by exome analysis and whole genome analysis is far from perfect. One neglected class of targets of routine genomic analysis is variants that would trigger aberrant splicing. Our integrated analysis of the exome and transcriptome data of 179 healthy individuals from the 1000 Genomes Project efficiently unraveled the population burden of 40 abnormal splicing-inducing mutations among all 1913 autosomal recessive disorders known. Intriguingly, seven variants annotated as “missense” (5) or “silent” (2) on the basis of conventional exome analyses had triggered abnormal splicing that disrupted the reading frame according to the integrated analysis, and that increased the overall detection rate of provisionally truncating pathogenic variants by almost 20%.
Mamiko will speak about Effectiveness of integrated interpretation of exome and corresponding transcriptome data in detecting splicing variants of recessive disorders in the session Novel diagnostic approaches at 18:30 hrs.
March 1987, Tokyo, JAPAN
Q2:
Instructor, Center for Medical Genetics, Keio University School of Medicine
Q3:
During my career as a pediatrician, I have provided care to several unforgettable patients with genetic disorders and their families who were living active lives despite their difficult health and social status. Hoping to alleviate their lives through better care, I decided to choose medical genetics as my specialty. Obviously, the field awaits fundamental progress in regard to both diagnosis and treatment. I wish to devote my future professional career to improving clinical practice in medical genetics, and to conducting basic research in human genetics as a means of tackling whatever issues need to be resolved to improve patient care.
Q4:
We are faced with the inconvenient truth that the diagnostic success rate of genome analysis by exome analysis and whole genome analysis is far from perfect. One neglected class of targets of routine genomic analysis is variants that would trigger aberrant splicing. Our integrated analysis of the exome and transcriptome data of 179 healthy individuals from the 1000 Genomes Project efficiently unraveled the population burden of 40 abnormal splicing-inducing mutations among all 1913 autosomal recessive disorders known. Intriguingly, seven variants annotated as “missense” (5) or “silent” (2) on the basis of conventional exome analyses had triggered abnormal splicing that disrupted the reading frame according to the integrated analysis, and that increased the overall detection rate of provisionally truncating pathogenic variants by almost 20%.
Mamiko will speak about Effectiveness of integrated interpretation of exome and corresponding transcriptome data in detecting splicing variants of recessive disorders in the session Novel diagnostic approaches at 18:30 hrs.
Q1:
27.10.1987, Campina Grande, Brazil
Q2:
Post-doctoral fellow
Q3:
That kid dream to cure all the genetic disorders in the world…
Q4:
How one can use Hi-C to detect and interpret structural variants in individuals with developmental disorders
Uira will speak about Chromosome conformation capture (HiC) combined with whole genome sequencing for the detection and functional interpretation of complex genomic rearrangements in developmental disease in the session Novel diagnostic approaches at 18:30:00 hrs.
27.10.1987, Campina Grande, Brazil
Q2:
Post-doctoral fellow
Q3:
That kid dream to cure all the genetic disorders in the world…
Q4:
How one can use Hi-C to detect and interpret structural variants in individuals with developmental disorders
Uira will speak about Chromosome conformation capture (HiC) combined with whole genome sequencing for the detection and functional interpretation of complex genomic rearrangements in developmental disease in the session Novel diagnostic approaches at 18:30:00 hrs.
Q1:
22.08.1985, Ulm, Germany
Q2:
Postdoc at the JRG Computational Genome Biology, Berlin Institute of Health (BIH), Germany
Q3:
My interest in genetics started after the introduction in school. Now, as a bioinformatician, genetics gives me the opportunity to analyze large biological datasets and learn fascinating things about molecular mechanisms. So genetics combines my profession with my passion.
Q4:
We created expression effect readouts of variants from 20 disease-associated enhancer/promoter regions at an unprecedented scale. This data provides a gold standard for further score developments and supports clinical variant interpretation.
Max will speak about Saturation mutagenesis of disease-associated regulatory elements in the session 3D gene regulation at 18:30 hrs.
22.08.1985, Ulm, Germany
Q2:
Postdoc at the JRG Computational Genome Biology, Berlin Institute of Health (BIH), Germany
Q3:
My interest in genetics started after the introduction in school. Now, as a bioinformatician, genetics gives me the opportunity to analyze large biological datasets and learn fascinating things about molecular mechanisms. So genetics combines my profession with my passion.
Q4:
We created expression effect readouts of variants from 20 disease-associated enhancer/promoter regions at an unprecedented scale. This data provides a gold standard for further score developments and supports clinical variant interpretation.
Max will speak about Saturation mutagenesis of disease-associated regulatory elements in the session 3D gene regulation at 18:30 hrs.
Q1:
30.12.1986 in Zrenjanin, Serbia
Q2:
Postdoc at the Institute of Human Genetics in Lübeck
Q3:
I have been fascinated by genetics since the very first lesson in my elementary school, which somehow overlapped with watching the movie GATTACA. How can it be that we all have such similar genetic material, and yet are so different from each other? How can it be that two individuals carry the same pathogenic change, and yet one of them is healthy? When will we completely understand the non-coding genome and the gravity of epigenetics? Will an effective and safe gene therapy ever be our option?
Q4:
We have investigated molecular pathways leading to X-linked dystonia-parkinsonism (XDP), a rare and unfortunately very severe neurodegenerative disorder. XDP is caused by the insertion of an SVA retrotransposon in the intronic region of TAF1, that consequently downregulates expression of a TAF1-encoded transcription factor. Importantly, the SVA contains a polymorphic hexanucleotide repeat that modifies the severity and age at onset in XDP. Our work provides new insights into disease-relevant mechanisms of SVA-mediated alteration of TAF1 expression and has a huge translational potential for XDP as well as other repeat-expansion and SVA-related disorders.
Jelena will speak about Novel insights into molecular mechanisms in X-linked dystonia-parkinsonism (XDP) in the session 3D gene regulation at 18:30 hrs.
30.12.1986 in Zrenjanin, Serbia
Q2:
Postdoc at the Institute of Human Genetics in Lübeck
Q3:
I have been fascinated by genetics since the very first lesson in my elementary school, which somehow overlapped with watching the movie GATTACA. How can it be that we all have such similar genetic material, and yet are so different from each other? How can it be that two individuals carry the same pathogenic change, and yet one of them is healthy? When will we completely understand the non-coding genome and the gravity of epigenetics? Will an effective and safe gene therapy ever be our option?
Q4:
We have investigated molecular pathways leading to X-linked dystonia-parkinsonism (XDP), a rare and unfortunately very severe neurodegenerative disorder. XDP is caused by the insertion of an SVA retrotransposon in the intronic region of TAF1, that consequently downregulates expression of a TAF1-encoded transcription factor. Importantly, the SVA contains a polymorphic hexanucleotide repeat that modifies the severity and age at onset in XDP. Our work provides new insights into disease-relevant mechanisms of SVA-mediated alteration of TAF1 expression and has a huge translational potential for XDP as well as other repeat-expansion and SVA-related disorders.
Jelena will speak about Novel insights into molecular mechanisms in X-linked dystonia-parkinsonism (XDP) in the session 3D gene regulation at 18:30 hrs.
Q1:
15/02/1992 in Trento (Italy)
Q2:
PhD student at University of Trento
Q3:
Understanding the efficacy of SINEUP, a new RNA-based technology to rescue, in a controlled and specific way, the phenotypes induced by protein haploinsufficiency, is crucial for possible development of new drugs, not only relevant for epilepsy or ASD, but for a large repertoire of presently incurable genetic diseases.
Q4:
Understanding the efficacy of SINEUP, a new RNA-based technology to rescue, in a controlled and specific way, the phenotypes induced by protein haploinsufficiency, is crucial for possible development of new drugs, not only relevant for epilepsy or ASD, but for a large repertoire of presently incurable genetic diseases.
Michele will speak about SINEUPs technology: a new route to possibly treat haploinsufficiency-induced Epilepsy and Autism Spectrum Disorders (ASDs) in the session Neurogenetic and psychiatric disorders at 18:30 hrs.
15/02/1992 in Trento (Italy)
Q2:
PhD student at University of Trento
Q3:
Understanding the efficacy of SINEUP, a new RNA-based technology to rescue, in a controlled and specific way, the phenotypes induced by protein haploinsufficiency, is crucial for possible development of new drugs, not only relevant for epilepsy or ASD, but for a large repertoire of presently incurable genetic diseases.
Q4:
Understanding the efficacy of SINEUP, a new RNA-based technology to rescue, in a controlled and specific way, the phenotypes induced by protein haploinsufficiency, is crucial for possible development of new drugs, not only relevant for epilepsy or ASD, but for a large repertoire of presently incurable genetic diseases.
Michele will speak about SINEUPs technology: a new route to possibly treat haploinsufficiency-induced Epilepsy and Autism Spectrum Disorders (ASDs) in the session Neurogenetic and psychiatric disorders at 18:30 hrs.
Q1:
D.O.B = 1990.08.27.
Hometown = Seoul, South Korea
Q2:
Earned Ph.D. in Feb. 2019 and working as a post-doc at translational neurogenetics laboratory in KAIST (https://tnl.kaist.ac.kr/)
Q3:
Interest in genomics-driven precision medicine toward neurodegenerative diseases including Alzheimer’s disease
Q4:
Unraveling existence of brain somatic mutations in Alzheimer’s disease and discovery of a novel pathogenic somatic mutation in PIN1 associated with hyperphosphorylation of Tau
Jun Sung will speak about Brain somatic mutations associated with aging contribute to the initiation of Tau pathology in Alzheimer’s disease in the session Neurogenetic and psychiatric disorders at 18:30 hrs.
D.O.B = 1990.08.27.
Hometown = Seoul, South Korea
Q2:
Earned Ph.D. in Feb. 2019 and working as a post-doc at translational neurogenetics laboratory in KAIST (https://tnl.kaist.ac.kr/)
Q3:
Interest in genomics-driven precision medicine toward neurodegenerative diseases including Alzheimer’s disease
Q4:
Unraveling existence of brain somatic mutations in Alzheimer’s disease and discovery of a novel pathogenic somatic mutation in PIN1 associated with hyperphosphorylation of Tau
Jun Sung will speak about Brain somatic mutations associated with aging contribute to the initiation of Tau pathology in Alzheimer’s disease in the session Neurogenetic and psychiatric disorders at 18:30 hrs.
Q1:
27-07-1993, Roosendaal, The Netherlands
Q2:
I’m a Phd student at the department of clinical genetics (Erasmus University Medical Center Rotterdam).
Q3:
Since the early start of my medical studies, I have been fascinated by the role of genetics in the fine balance between health and disease. The understanding about genetics is continuously growing. Working in the field of genetics in these times is extremely exciting.
Q4:
By discovering novel disease-causing variants we aim to help in understanding the molecular basis of brain development. Our results describe a novel syndrome and a novel pathway leading to a severe human cerebral developmental disorder. The intriguing combination of clinical data, whole exome sequencing, RNA sequencing and unravelling the functional role of these mutations deepens our understanding of the complex processes in brain development.
Daphne will speak about Loss of neutral sphingomyelinase-3 (SMPD4) links neurodevelopmental disorders to cell cycle and nuclear envelope anomalies in the session Neurogenetic and psychiatric disorders at 18:30 hrs.
27-07-1993, Roosendaal, The Netherlands
Q2:
I’m a Phd student at the department of clinical genetics (Erasmus University Medical Center Rotterdam).
Q3:
Since the early start of my medical studies, I have been fascinated by the role of genetics in the fine balance between health and disease. The understanding about genetics is continuously growing. Working in the field of genetics in these times is extremely exciting.
Q4:
By discovering novel disease-causing variants we aim to help in understanding the molecular basis of brain development. Our results describe a novel syndrome and a novel pathway leading to a severe human cerebral developmental disorder. The intriguing combination of clinical data, whole exome sequencing, RNA sequencing and unravelling the functional role of these mutations deepens our understanding of the complex processes in brain development.
Daphne will speak about Loss of neutral sphingomyelinase-3 (SMPD4) links neurodevelopmental disorders to cell cycle and nuclear envelope anomalies in the session Neurogenetic and psychiatric disorders at 18:30 hrs.
Q1:
5.11.83 Newcastle-Upon-Tyne
Q2:
Welsh Clinical Academic Track (WCAT) Fellow at Cardiff University
Registrar in Medical Genetics at University Hospital of Wales
Q3:
I have a long standing interest in the molecular mechanisms of disease and relished the opportunity to work in a rapidly advancing field. As the technology and understanding of genetic diseases develops, academic clinicians will be at the forefront of the effort to bring direct benefits to patients.
Q4:
It represents a new approach to assessing the impact of perturbations of DNA repair on the developing CNS, utilising a combination of Cas9 targeted gene editing and Nanopore long read sequencing.
5.11.83 Newcastle-Upon-Tyne
Q2:
Welsh Clinical Academic Track (WCAT) Fellow at Cardiff University
Registrar in Medical Genetics at University Hospital of Wales
Q3:
I have a long standing interest in the molecular mechanisms of disease and relished the opportunity to work in a rapidly advancing field. As the technology and understanding of genetic diseases develops, academic clinicians will be at the forefront of the effort to bring direct benefits to patients.
Q4:
It represents a new approach to assessing the impact of perturbations of DNA repair on the developing CNS, utilising a combination of Cas9 targeted gene editing and Nanopore long read sequencing.
Ian will speak about Exploring the impact of CHD2 mutations on DNA double strand break (DSB) repair via non-homologous end joining (NHEJ) using Cas9 and Nanopore sequencing in human induced pluripotent stem cells (hIPSC) in the session Neurogenetic and psychiatric disorders at 18:30 hrs.
Q1:
12-09-1992, Nijmegen (the Netherlands)
Q2:
PhD student at the Radboud University Medical Centre
Q3:
I have been fascinated by DNA ever since I visited a Science Museum in Amsterdam as a child. The fascination only grew during my Biology studies and I decided to learn more by doing a PhD in genetics. I enjoy to “hunt” for novel pathogenic variants in large datasets and aim for improved genetic diagnostics for infertility.
Q4:
Although thousands of genes are known to be involved in spermatogenesis, the genetic causes behind severe spermatogenic failure remain largely unknown. Here we report on the first exome sequencing study to investigate the role of de novo mutations and deletions in patients with male infertility. Our data provide the first indications that these de novo mutations may play an important role in men with spermatogenic failure.
Manon will speak about Exome sequencing reveals de novo mutations and deletions in severe idiopathic male infertility in the session Fertility at 18:30 hrs.
12-09-1992, Nijmegen (the Netherlands)
Q2:
PhD student at the Radboud University Medical Centre
Q3:
I have been fascinated by DNA ever since I visited a Science Museum in Amsterdam as a child. The fascination only grew during my Biology studies and I decided to learn more by doing a PhD in genetics. I enjoy to “hunt” for novel pathogenic variants in large datasets and aim for improved genetic diagnostics for infertility.
Q4:
Although thousands of genes are known to be involved in spermatogenesis, the genetic causes behind severe spermatogenic failure remain largely unknown. Here we report on the first exome sequencing study to investigate the role of de novo mutations and deletions in patients with male infertility. Our data provide the first indications that these de novo mutations may play an important role in men with spermatogenic failure.
Manon will speak about Exome sequencing reveals de novo mutations and deletions in severe idiopathic male infertility in the session Fertility at 18:30 hrs.
Q1:
10th October 1983, Visakhapatnam, India
Q2:
Post Doctoral Researcher at Centre for Cellular and Molecular Biology, Hyderabad, India
Q3:
Many human diseases have direct or indirect connections with our genetic information or genomes. I feel privileged to work in the field of genetics in an era that is witnessing genomic revolution. The genetic diversity in India and the vast number of rare diseases in India has always fascinated me to look into genetic aspects of diseases. Moreover, the fact that genomics is advancing rapidly motivates me to work in the field of clinical genetics that promise potential long-term implications such as proper diagnosis and novel therapeutic interventions .
Q4: I will be presenting our journey from exome sequencing to the identification of a few novel genes/variants associated with male infertility. In particular, I will focus on variants from a particular gene, CETN1 (picked up from exome data) and the functional studies that have shown the implications of CETN1 variants on spermatogenesis and and outcomes of assisted reproduction.
Digumarthi will speak about CETN1 is associated with spermatogenesis and male fertility: Genetic and functional perspectives in the session Fertility at 18:30 hrs.
10th October 1983, Visakhapatnam, India
Q2:
Post Doctoral Researcher at Centre for Cellular and Molecular Biology, Hyderabad, India
Q3:
Many human diseases have direct or indirect connections with our genetic information or genomes. I feel privileged to work in the field of genetics in an era that is witnessing genomic revolution. The genetic diversity in India and the vast number of rare diseases in India has always fascinated me to look into genetic aspects of diseases. Moreover, the fact that genomics is advancing rapidly motivates me to work in the field of clinical genetics that promise potential long-term implications such as proper diagnosis and novel therapeutic interventions .
Q4: I will be presenting our journey from exome sequencing to the identification of a few novel genes/variants associated with male infertility. In particular, I will focus on variants from a particular gene, CETN1 (picked up from exome data) and the functional studies that have shown the implications of CETN1 variants on spermatogenesis and and outcomes of assisted reproduction.
Digumarthi will speak about CETN1 is associated with spermatogenesis and male fertility: Genetic and functional perspectives in the session Fertility at 18:30 hrs.
Q1:
June 20 1992 – Heidelberg, Germany
Q2:
PhD student at the University Medical Center Utrecht, the Netherlands.
Q3:
Genetics represents a heavily translational research area. I enjoy combining basic science with genetic knowledge to identify the cause and molecular mechanism underlying a disease and eventually benefitting human health.
Q4:
My project follows the identification of a genetic cause until the development of a therapeutic treatment for a rare genetic disorder called Cantu syndrome.
In detail, we developed a standardized patient registry to generate a critical mass of patients to find further clinical characteristics of the disease as well as to ensure a rapid progression towards future interventional studies.
In order to perform therapeutic drug screening, we have developed novel CS animal models in which disease-causing mutations were knocked-in to the associated gene in zebrafish and mice. Both models recapitulate key features of Cantu which significantly reverse after drug administration.
In the near future this project will come full circle when we start performing clinical trials to test the compound in patients.
Helen will speak about Towards the treatment of Cantú syndrome in the session Developmental disorders 1 at 18:30 hrs.
June 20 1992 – Heidelberg, Germany
Q2:
PhD student at the University Medical Center Utrecht, the Netherlands.
Q3:
Genetics represents a heavily translational research area. I enjoy combining basic science with genetic knowledge to identify the cause and molecular mechanism underlying a disease and eventually benefitting human health.
Q4:
My project follows the identification of a genetic cause until the development of a therapeutic treatment for a rare genetic disorder called Cantu syndrome.
In detail, we developed a standardized patient registry to generate a critical mass of patients to find further clinical characteristics of the disease as well as to ensure a rapid progression towards future interventional studies.
In order to perform therapeutic drug screening, we have developed novel CS animal models in which disease-causing mutations were knocked-in to the associated gene in zebrafish and mice. Both models recapitulate key features of Cantu which significantly reverse after drug administration.
In the near future this project will come full circle when we start performing clinical trials to test the compound in patients.
Helen will speak about Towards the treatment of Cantú syndrome in the session Developmental disorders 1 at 18:30 hrs.
Q1:
28/03/1986 in Torino, Italy
Q2:
Post-doctoral research associate
Q3:
I chose a career in genetics as I am always being interested in understanding the molecular basis of diseases. The complexity of the human genome fascinates me. I find intriguing to understand how chromatin structure and function underpins biological process and how their dysregulation results in diseases. Working in the genetic field gave me the opportunity to contribute on the discovery of novel rare genetic disorders. This has really motivated me to continue in this path.
Q4:
I am presenting a novel malformation disorder caused by a restricted spectrum of pathogenic KMT2D missense variants. Interestingly, all individuals present with specific clinical features. Those features are strikingly distinct from Kabuki syndrome individuals which carry loss-of-function KMT2D variants. Samples derived from affected individuals show a specific DNA methylation signature, altered cell proliferation and migration. In addition, analyses performed on the purified KMT2D coiled-coil domain also provide insights into function of previously unstudied region of this important protein which results perturbed by the missense variants.
28/03/1986 in Torino, Italy
Q2:
Post-doctoral research associate
Q3:
I chose a career in genetics as I am always being interested in understanding the molecular basis of diseases. The complexity of the human genome fascinates me. I find intriguing to understand how chromatin structure and function underpins biological process and how their dysregulation results in diseases. Working in the genetic field gave me the opportunity to contribute on the discovery of novel rare genetic disorders. This has really motivated me to continue in this path.
Q4:
I am presenting a novel malformation disorder caused by a restricted spectrum of pathogenic KMT2D missense variants. Interestingly, all individuals present with specific clinical features. Those features are strikingly distinct from Kabuki syndrome individuals which carry loss-of-function KMT2D variants. Samples derived from affected individuals show a specific DNA methylation signature, altered cell proliferation and migration. In addition, analyses performed on the purified KMT2D coiled-coil domain also provide insights into function of previously unstudied region of this important protein which results perturbed by the missense variants.
Sara will speak about A restricted spectrum of KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome in the session Developmental disorders 1 at 18:30 hrs.
Q1:
18 FEB 1984 in TULA, RUSSIA
Q2:
PhD student at prof. Ohad Birk’s lab, Ben-Gurion University of the Negev, Beer Sheva, Israel
Q3:
The field of human genetics seeks to discover the influence of heredity on individual differences in human traits and development with accent on human diseases. Using the rapidly growing knowledge and the modern tools we have the great possibility to help people to live better and to have healthy children. That’s what inspires me to do my best.
Q4:
Discovering of a novel gene as a cause of a certain disease always allows scientists and doctors to expand their searching area to bring the good news for the people without hope. Our findings contribute to global science a new potential cause for severe neurodevelopmental disorder and also possibly enable novel therapeutic approaches.
Vadim will speak about DEGS1 Mutation causes sphingolipidosis in the session Cellular dysfunctions at 18:30 hrs.
18 FEB 1984 in TULA, RUSSIA
Q2:
PhD student at prof. Ohad Birk’s lab, Ben-Gurion University of the Negev, Beer Sheva, Israel
Q3:
The field of human genetics seeks to discover the influence of heredity on individual differences in human traits and development with accent on human diseases. Using the rapidly growing knowledge and the modern tools we have the great possibility to help people to live better and to have healthy children. That’s what inspires me to do my best.
Q4:
Discovering of a novel gene as a cause of a certain disease always allows scientists and doctors to expand their searching area to bring the good news for the people without hope. Our findings contribute to global science a new potential cause for severe neurodevelopmental disorder and also possibly enable novel therapeutic approaches.
Vadim will speak about DEGS1 Mutation causes sphingolipidosis in the session Cellular dysfunctions at 18:30 hrs.
Q1:
08/11/1992, Leiden
Q2:
PhD student at the Laboratory for Molecular Diagnosis (Department for Human Genetics, KU Leuven)
Q3:
I have a strong interest in understanding the molecular mechanisms that cause diseases. More specifically, the world of the rare genetic disorders has caught my attention; it is very gratifying to be able to help patients in their challenging and often very long search for a diagnosis (and possible therapy).
Q4:
We were able to link two – at first sight – different disorders by showing that the mechanism causing both diseases is the same, and that they are in fact one disorder (MAGT1-CDG). This also concluded an ongoing debate about the function of the studied protein (MAGT1) and confirmed its role in glycosylation.
Eline will speak about MAGT1-CDG vs. XMEN: two faces of a novel glycosylation disorder in the session Cellular dysfunctions at 18:30 hrs.
08/11/1992, Leiden
Q2:
PhD student at the Laboratory for Molecular Diagnosis (Department for Human Genetics, KU Leuven)
Q3:
I have a strong interest in understanding the molecular mechanisms that cause diseases. More specifically, the world of the rare genetic disorders has caught my attention; it is very gratifying to be able to help patients in their challenging and often very long search for a diagnosis (and possible therapy).
Q4:
We were able to link two – at first sight – different disorders by showing that the mechanism causing both diseases is the same, and that they are in fact one disorder (MAGT1-CDG). This also concluded an ongoing debate about the function of the studied protein (MAGT1) and confirmed its role in glycosylation.
Eline will speak about MAGT1-CDG vs. XMEN: two faces of a novel glycosylation disorder in the session Cellular dysfunctions at 18:30 hrs.
Q1:
July 23, 1986 – Beirut, Lebanon.
Q2:
Postdoctoral fellow at INSERM U1148 in the team of Prof. Catherine BOILEAU with short stays in the laboratory of Biochemistry and Molecular Therapies directed by Prof. Marianne ABI FADEL at Saint Joseph University in Beirut.
Q3:
After my graduation from Pharmacy school, I decided to continue in scientific research. During my Masters in pharmaceutical and biological sciences, I became fascinated by the complexity of the human genome and intrigued by the link between genetic variations and diseases. Understanding the molecular mechanisms leading to rare and severe diseases is clearly a challenge to undertake in order to improve diagnosis and discover new therapeutic approaches. Moreover, having access to the Lebanese population which is characterized by a strong homogeneity of the genetic background facilitates the study of many hereditary diseases.
Q4:
I will present the implication of a new gene (LRP6) in Familial hypercholesterolemia (FH), a genetic disorder of lipoprotein metabolism characterized by high total cholesterol and low-density lipoproteins cholesterol (LDL-C) levels. FH is a hereditary disorder caused by mutations in five genes: LDLR, APOB, PCSK9, APOE and LDLRAP1. Mutations in identified FH causing genes cover around 80 % of HeFH cases. Other FH-causing genes remain to be characterized. The objective of our genetic studies undertaken in families with FH is to discover new genes, major genetic factors and modifiers involved in this pathology and in its cardiovascular complications. The identification of new genes, followed by the study of the physiopathological mechanisms linked to their mutations, may lead to new therapeutic targets in familial hypercholesterolemia. This was the case of PCSK9 since the discovery by our team of mutations in the dominant forms of FH has allowed the identification of a major protagonist of cholesterol homeostasis and associated cardiovascular complications and led to the development of new drugs for the treatment of FH.
Youmna will speak about Implication of LRP6 variants in familial hypercholesterolemia in the session Cellular dysfunctions at 18:30 hrs.
July 23, 1986 – Beirut, Lebanon.
Q2:
Postdoctoral fellow at INSERM U1148 in the team of Prof. Catherine BOILEAU with short stays in the laboratory of Biochemistry and Molecular Therapies directed by Prof. Marianne ABI FADEL at Saint Joseph University in Beirut.
Q3:
After my graduation from Pharmacy school, I decided to continue in scientific research. During my Masters in pharmaceutical and biological sciences, I became fascinated by the complexity of the human genome and intrigued by the link between genetic variations and diseases. Understanding the molecular mechanisms leading to rare and severe diseases is clearly a challenge to undertake in order to improve diagnosis and discover new therapeutic approaches. Moreover, having access to the Lebanese population which is characterized by a strong homogeneity of the genetic background facilitates the study of many hereditary diseases.
Q4:
I will present the implication of a new gene (LRP6) in Familial hypercholesterolemia (FH), a genetic disorder of lipoprotein metabolism characterized by high total cholesterol and low-density lipoproteins cholesterol (LDL-C) levels. FH is a hereditary disorder caused by mutations in five genes: LDLR, APOB, PCSK9, APOE and LDLRAP1. Mutations in identified FH causing genes cover around 80 % of HeFH cases. Other FH-causing genes remain to be characterized. The objective of our genetic studies undertaken in families with FH is to discover new genes, major genetic factors and modifiers involved in this pathology and in its cardiovascular complications. The identification of new genes, followed by the study of the physiopathological mechanisms linked to their mutations, may lead to new therapeutic targets in familial hypercholesterolemia. This was the case of PCSK9 since the discovery by our team of mutations in the dominant forms of FH has allowed the identification of a major protagonist of cholesterol homeostasis and associated cardiovascular complications and led to the development of new drugs for the treatment of FH.
Youmna will speak about Implication of LRP6 variants in familial hypercholesterolemia in the session Cellular dysfunctions at 18:30 hrs.
Q1:
July 10, 1988, San Giovanni Rotondo (Foggia), Italy
Q2:
I am PhD student at the University of Lausanne
Q3:
Since high school I have been attracted by biology, especially the genetics contribution to health and disease. Continuing with my studies in medical biotechnology and genetics, I became more and more interested in rare disorders and their underlying mechanisms.
Q4:
I will report on individuals affected by an ultra-rare syndrome, named IDDCA (Intellectual Developmental Delay with Cardiac Arrhythmia). Currently, we have knowledge of only 22 affected individuals worldwide. By applying NGS techniques, we identified GNB5 as the gene responsible for the syndrome. In addition, I will present our results on IDDCA disease mechanisms, which I think are essential to elucidate to pave the way for further drug screening.
Pasquelena will speak about Deciphering altered inhibitor G-protein signaling in the cardiac dysfunction underlying Intellectual Developmental Disorder with Cardiac Arrhythmia (IDDCA) syndrome in the session Cellular dysfunctions at 18:30 hrs.
July 10, 1988, San Giovanni Rotondo (Foggia), Italy
Q2:
I am PhD student at the University of Lausanne
Q3:
Since high school I have been attracted by biology, especially the genetics contribution to health and disease. Continuing with my studies in medical biotechnology and genetics, I became more and more interested in rare disorders and their underlying mechanisms.
Q4:
I will report on individuals affected by an ultra-rare syndrome, named IDDCA (Intellectual Developmental Delay with Cardiac Arrhythmia). Currently, we have knowledge of only 22 affected individuals worldwide. By applying NGS techniques, we identified GNB5 as the gene responsible for the syndrome. In addition, I will present our results on IDDCA disease mechanisms, which I think are essential to elucidate to pave the way for further drug screening.
Pasquelena will speak about Deciphering altered inhibitor G-protein signaling in the cardiac dysfunction underlying Intellectual Developmental Disorder with Cardiac Arrhythmia (IDDCA) syndrome in the session Cellular dysfunctions at 18:30 hrs.
Q1:
27-12-1989, Rotterdam, the Netherlands
Q2:
PhD student at the Amsterdam UMC, department of Clinical Genetics section Community Genetics at location VUMC and the Center for Reproductive Medicine at location AMC.
Q3:
I am researching the dynamics of different reproductive genetic technologies. The PhD project which I am involved in combines perspectives from genetics, reproductive medicine, public health, social sciences and ethics. That’s what makes it such a fascinating project and interesting because it focuses on these different fields. Moreover, it is a rapidly evolving field with exciting developments, that makes it interesting to contribute to and conduct research in.
Q4:
At the ESHG (hopefully more this year since the merge with EMPAG) there is not much qualitative research presented. Developments in genetics impact individuals and their families and society, and therefore I think it is important to have more room for these perspectives on genetic issues.
We conducted interviews with people who had a known increased risk on an affected child with a genetic disorder. We explored their perspectives towards new genetic technologies: non-invasive prenatal diagnosis, germline genome modification and somatic gene modification. Furthermore, this study explores if the availability of these techniques would influence their reproductive decision-making. With these insights we hope to contribute to the (future) developments of these techniques in the right direction and eventually to a responsible implementation in the clinic.
Ivy will speak about How will new reproductive genetic technologies change genetically at-risk couples’ reproductive decision making? Views on NIPD and gene modification in the session Gene editing and reproduction at 18:30 hrs.
27-12-1989, Rotterdam, the Netherlands
Q2:
PhD student at the Amsterdam UMC, department of Clinical Genetics section Community Genetics at location VUMC and the Center for Reproductive Medicine at location AMC.
Q3:
I am researching the dynamics of different reproductive genetic technologies. The PhD project which I am involved in combines perspectives from genetics, reproductive medicine, public health, social sciences and ethics. That’s what makes it such a fascinating project and interesting because it focuses on these different fields. Moreover, it is a rapidly evolving field with exciting developments, that makes it interesting to contribute to and conduct research in.
Q4:
At the ESHG (hopefully more this year since the merge with EMPAG) there is not much qualitative research presented. Developments in genetics impact individuals and their families and society, and therefore I think it is important to have more room for these perspectives on genetic issues.
We conducted interviews with people who had a known increased risk on an affected child with a genetic disorder. We explored their perspectives towards new genetic technologies: non-invasive prenatal diagnosis, germline genome modification and somatic gene modification. Furthermore, this study explores if the availability of these techniques would influence their reproductive decision-making. With these insights we hope to contribute to the (future) developments of these techniques in the right direction and eventually to a responsible implementation in the clinic.
Ivy will speak about How will new reproductive genetic technologies change genetically at-risk couples’ reproductive decision making? Views on NIPD and gene modification in the session Gene editing and reproduction at 18:30 hrs.
Q1:
27-09-1993, Velsen
Q2:
I am a PHD candidate within the department of Clinical Genetics, section Community Genetics at the Amsterdam UMC, the Netherlands
Q3:
Genetics is a fascinating research field, with exponentially increasing new developments fueling the progress of science and benefiting patients, families and society. For me personally, I chose this career because I want to make a contribution to this progress and help make the world a little bit better.
Q4:
The Netherlands is one of the first countries to offer Non-Invasive Prenatal Testing (NIPT) within its national prenatal screening program as a first-tier test for all pregnant women. Due to the many favorable characteristics of NIPT there has been a strong demand for its implementation. However, little is known regarding the impact on routinization and informed decision-making within a low-risk population setting. In our questionnaire study we evaluated Dutch women’s perspectives on the offer of NIPT.
Karuna will speak about National implementation of genome-wide non-invasive prenatal testing as a first-tier screening test in the Netherlands: evaluation of women’s perspectives in the session Gene editing and reproduction at 18:30 hrs.
27-09-1993, Velsen
Q2:
I am a PHD candidate within the department of Clinical Genetics, section Community Genetics at the Amsterdam UMC, the Netherlands
Q3:
Genetics is a fascinating research field, with exponentially increasing new developments fueling the progress of science and benefiting patients, families and society. For me personally, I chose this career because I want to make a contribution to this progress and help make the world a little bit better.
Q4:
The Netherlands is one of the first countries to offer Non-Invasive Prenatal Testing (NIPT) within its national prenatal screening program as a first-tier test for all pregnant women. Due to the many favorable characteristics of NIPT there has been a strong demand for its implementation. However, little is known regarding the impact on routinization and informed decision-making within a low-risk population setting. In our questionnaire study we evaluated Dutch women’s perspectives on the offer of NIPT.
Karuna will speak about National implementation of genome-wide non-invasive prenatal testing as a first-tier screening test in the Netherlands: evaluation of women’s perspectives in the session Gene editing and reproduction at 18:30 hrs.
These authors will present on Sunday, June 16
Q1:
15th March 1986 – Kota Bharu, Malaysia
Q2:
I am a Postdoctoral Researcher in Molecular Genetics at the MRC-Weatherall Institute of Molecular Medicine (WIMM), University of Oxford
Q4:
We have designed a study called PREGCARE (Precision Genetic Counselling and Reproduction) which aims to provide healthy couples who have a child affected by a developmental disorder a personalised pre-conception risk evaluation to determine the likelihood that a future child will also be affected by the same condition (the ‘recurrence risk’). Our focus is families where the pathogenic mutation has been identified in the affected child but not detected in either parent on routine analysis (termed ‘de novo’ mutations or DNMs), which is estimated to affect ~1 in 295 live births (0.34% of all births or ~3,500 births per year in the UK alone).
15th March 1986 – Kota Bharu, Malaysia
Q2:
I am a Postdoctoral Researcher in Molecular Genetics at the MRC-Weatherall Institute of Molecular Medicine (WIMM), University of Oxford
Q4:
We have designed a study called PREGCARE (Precision Genetic Counselling and Reproduction) which aims to provide healthy couples who have a child affected by a developmental disorder a personalised pre-conception risk evaluation to determine the likelihood that a future child will also be affected by the same condition (the ‘recurrence risk’). Our focus is families where the pathogenic mutation has been identified in the affected child but not detected in either parent on routine analysis (termed ‘de novo’ mutations or DNMs), which is estimated to affect ~1 in 295 live births (0.34% of all births or ~3,500 births per year in the UK alone).
Ummi will speak about The PREGCARE study: precision genetic counselling via personalised evaluation of recurrence risk for families with a child affected by a disorder caused by a de novo mutation in the session Prenatal Genetics at 13:00 hrs.
Q1:
July 5, 1993, Shenzhen, China
Q2:
Research Scientist
Q3:
I was always fascinated by genetics from an early age when I knew DNA is the code for all living things and has a great impact on diseases. I thought understanding more about genetics was crucial for understanding life, so I chose a career in genetics to contribute to the unraveling of genetic determinants of human disease and to the development of disease preventions and treatments.
Q4:
Next generation sequencing (NGS)‐based cell‐free DNA analysis has been widely adopted for non‐invasive prenatal screening (NIPS). We developed a new sequencing method that exploited whole‐genome sequencing data and targeted sequencing data, providing a convenient and expandable solution to simultaneously detect fetal chromosome aneuploidy and de novo mutations, as well as maternal carrier of monogenic diseases in a single experiment.
July 5, 1993, Shenzhen, China
Q2:
Research Scientist
Q3:
I was always fascinated by genetics from an early age when I knew DNA is the code for all living things and has a great impact on diseases. I thought understanding more about genetics was crucial for understanding life, so I chose a career in genetics to contribute to the unraveling of genetic determinants of human disease and to the development of disease preventions and treatments.
Q4:
Next generation sequencing (NGS)‐based cell‐free DNA analysis has been widely adopted for non‐invasive prenatal screening (NIPS). We developed a new sequencing method that exploited whole‐genome sequencing data and targeted sequencing data, providing a convenient and expandable solution to simultaneously detect fetal chromosome aneuploidy and de novo mutations, as well as maternal carrier of monogenic diseases in a single experiment.
Wang will speak about Validation of simultaneous detection of fetal chromosome aneuploidy and monogenic diseases by a novel noninvasive prenatal testing method: Targeted And Genome-wide simultaneous sequencing (TAGs-seq) in the session Prenatal Genetics at 13:00 hrs.
Q1:
April 28, 1988 in Charlottetown, Prince Edward Island, Canada
Q2:
Postdoctoral Fellow at the Massachusetts General Hospital & Broad Institute of MIT and Harvard
Q3:
From a young age I knew that I wanted to spend my career understanding what causes disease. It wasn’t until I started doing undergraduate research with my (future) PhD supervisor that I began to understand the importance of genetics in conferring risk for various disorders. One particular family we studied (with an inherited 16p11.2 duplication) had a profound effect on me because I was puzzled by the within-family variable expression. These initial experiences solidified my decision to pursue graduate school and a career in human genetics to better understand the phenomenon of variable expression and incomplete penetrance.
Q4:
With the cost of whole genome sequencing (WGS) drastically dropping over the last decade, there has been a great deal of enthusiasm surrounding it’s application for prenatal and pediatric diagnostics. Yet, few studies have systematically examined the clinical utility of WGS beyond the current standard of care. Our study performs the first large-scale and systematic comparison of WGS to conventional technologies, discovering 3.4M SNVs, 0.3M indels, and 5,863 structural variants (SVs) per genome. WGS recapitulated 99.6% of all CMA-predicted CNVs and >97% of all de novo coding variants from WES. Importantly, we benchmark a modest 1-2% increase in diagnostic yield by comparison of the combination of all conventional technologies. Taken together, this suggests that WGS may warrant consideration as a first-tier diagnostic screen in prenatal and pediatric diagnostics.
April 28, 1988 in Charlottetown, Prince Edward Island, Canada
Q2:
Postdoctoral Fellow at the Massachusetts General Hospital & Broad Institute of MIT and Harvard
Q3:
From a young age I knew that I wanted to spend my career understanding what causes disease. It wasn’t until I started doing undergraduate research with my (future) PhD supervisor that I began to understand the importance of genetics in conferring risk for various disorders. One particular family we studied (with an inherited 16p11.2 duplication) had a profound effect on me because I was puzzled by the within-family variable expression. These initial experiences solidified my decision to pursue graduate school and a career in human genetics to better understand the phenomenon of variable expression and incomplete penetrance.
Q4:
With the cost of whole genome sequencing (WGS) drastically dropping over the last decade, there has been a great deal of enthusiasm surrounding it’s application for prenatal and pediatric diagnostics. Yet, few studies have systematically examined the clinical utility of WGS beyond the current standard of care. Our study performs the first large-scale and systematic comparison of WGS to conventional technologies, discovering 3.4M SNVs, 0.3M indels, and 5,863 structural variants (SVs) per genome. WGS recapitulated 99.6% of all CMA-predicted CNVs and >97% of all de novo coding variants from WES. Importantly, we benchmark a modest 1-2% increase in diagnostic yield by comparison of the combination of all conventional technologies. Taken together, this suggests that WGS may warrant consideration as a first-tier diagnostic screen in prenatal and pediatric diagnostics.
Chelsea will speak about Systematic evaluation of prenatal and pediatric diagnostic yields from whole-genome sequencing in 8,954 individuals in the session Prenatal Genetics at 13:00 hrs.
Q1:
12 September 1991, Utrecht, The Netherlands
Q2:
Postdoctoral Research Scientist at Guy’s and St. Thomas’ NHS Foundation Trust, London
Q3:
My interest in biological sciences was initially spurred on by the idea of genetics as a fundamental code of all life, which not only affects an organism’s phenotype but is also shaped by evolutionary and population level forces. I feel fortunate to have worked on projects focused on population genetics, the functional genomics of development, and now translational clinical genetics. The wide range of sub-fields within genetics and the rapid pace of change in clinical genetics mean that there is always a new challenge to get your teeth into!
Q4:
Non-invasive prenatal diagnosis (NIPD) using cell-free fetal DNA circulating in the maternal bloodstream is available in the UK for a range of disorders. However, sickle cell disease is not one of these, despite being the most commonly requested monogenic prenatal test in the UK. This is because it is an autosomal recessive disorder in which the maternal and paternal variant are often the same. It has proven a tough nut to crack, and we are certainly not there yet, but the results I am presenting at ESHG 2019 are promising. If we can develop reliable and cost-effective NIPD for sickle cell disease, this would be a step forward in the extension of NIPD to other autosomal recessive disorders.
12 September 1991, Utrecht, The Netherlands
Q2:
Postdoctoral Research Scientist at Guy’s and St. Thomas’ NHS Foundation Trust, London
Q3:
My interest in biological sciences was initially spurred on by the idea of genetics as a fundamental code of all life, which not only affects an organism’s phenotype but is also shaped by evolutionary and population level forces. I feel fortunate to have worked on projects focused on population genetics, the functional genomics of development, and now translational clinical genetics. The wide range of sub-fields within genetics and the rapid pace of change in clinical genetics mean that there is always a new challenge to get your teeth into!
Q4:
Non-invasive prenatal diagnosis (NIPD) using cell-free fetal DNA circulating in the maternal bloodstream is available in the UK for a range of disorders. However, sickle cell disease is not one of these, despite being the most commonly requested monogenic prenatal test in the UK. This is because it is an autosomal recessive disorder in which the maternal and paternal variant are often the same. It has proven a tough nut to crack, and we are certainly not there yet, but the results I am presenting at ESHG 2019 are promising. If we can develop reliable and cost-effective NIPD for sickle cell disease, this would be a step forward in the extension of NIPD to other autosomal recessive disorders.
Julia will speak about Non-invasive prenatal diagnosis of sickle cell disease by next generation sequencing of cell-free DNA in the session Prenatal Genetics at 13:00 hrs.
Q1:
16/02/1992, Maddaloni (CE)
Q2:
I am a PhD student
Q3:
The reason why I choose a career in Genetics is becouse it shows a great diversity between each person, thus defining the individuality. Moreover, Genetics represents the weapon that we have to recognize rare diseases still too little studied.
Q4:
The use of liquid biopsy represents a new frontier for precision medicine and for monitoring clonal evolution over time.
16/02/1992, Maddaloni (CE)
Q2:
I am a PhD student
Q3:
The reason why I choose a career in Genetics is becouse it shows a great diversity between each person, thus defining the individuality. Moreover, Genetics represents the weapon that we have to recognize rare diseases still too little studied.
Q4:
The use of liquid biopsy represents a new frontier for precision medicine and for monitoring clonal evolution over time.
Maria will speak about Cell free-DNA pinpoints specific clonal expansion at disease progression in solid cancers in the session Cancer genetics at 13:00 hrs.
Q1:
19.06.1988, Engen
Q2:
PhD student at the Center for Hereditary Breast and Ovarian Cancer, University Hospital Cologne, Germany
Q3:
Human genetics combines one of the most dynamic and fast growing research areas with direct implications for clinical decision making. The translational aspects ranging from basic disease mechanisms to precision medicine are highly interesting and the main reasons for me to perform my PhD in this research area
Q4:
The polygenic risk score (PRS), identified by large-scale international GWAS, may improve personalized risk stratification for breast cancer. Here, we independently validate the PRS in women carrying pathogenic variants in CHEK2, a moderately penetrant breast cancer predisposition gene. CHEK2-positive women with a high PRS are at elevated risk to develop early breast cancer and may benefit from preventive measures.
Julika will speak about Polygenic risk scores modify age-dependent breast cancer risk in CHEK2 germline mutation carriers in the session Cancer genetics at 13:00 hrs.
19.06.1988, Engen
Q2:
PhD student at the Center for Hereditary Breast and Ovarian Cancer, University Hospital Cologne, Germany
Q3:
Human genetics combines one of the most dynamic and fast growing research areas with direct implications for clinical decision making. The translational aspects ranging from basic disease mechanisms to precision medicine are highly interesting and the main reasons for me to perform my PhD in this research area
Q4:
The polygenic risk score (PRS), identified by large-scale international GWAS, may improve personalized risk stratification for breast cancer. Here, we independently validate the PRS in women carrying pathogenic variants in CHEK2, a moderately penetrant breast cancer predisposition gene. CHEK2-positive women with a high PRS are at elevated risk to develop early breast cancer and may benefit from preventive measures.
Julika will speak about Polygenic risk scores modify age-dependent breast cancer risk in CHEK2 germline mutation carriers in the session Cancer genetics at 13:00 hrs.
Q1:
7th of November 1990, Geel, Belgium
Q2:
Postdoctoral researcher
Q3:
Genetics is a multidisciplinary field addressing questions with a strong and immediate impact on society.
Q4:
The identification of genetic causes of bicuspid aortic valve-related aortopathy has been challenged for many years. This research reveals the success of identifying novel genetic players in its field by using an international multi-omics approach.
Ilse will speak about Multi-omics approach identifies three novel genes for bicuspid aortic valve related aortopathy in the session Cardiovascular disorders at 13:00 hrs.
7th of November 1990, Geel, Belgium
Q2:
Postdoctoral researcher
Q3:
Genetics is a multidisciplinary field addressing questions with a strong and immediate impact on society.
Q4:
The identification of genetic causes of bicuspid aortic valve-related aortopathy has been challenged for many years. This research reveals the success of identifying novel genetic players in its field by using an international multi-omics approach.
Ilse will speak about Multi-omics approach identifies three novel genes for bicuspid aortic valve related aortopathy in the session Cardiovascular disorders at 13:00 hrs.
Q1:
11/08/1989 Cattolica, Italy
Q2:
PhD student at the Department of Genetic Medicine and Development, University of Geneva
Q3:
I believe biology is the melting pot of science: it combines physics, chemistry, math, helping us to make a puzzle of the surrounding world. Genetics has always fascinated me because is the key to understand the underlying mechanisms in health and disease and how human beings and all the other species evolved and adapted to an environment that is constantly changing.
Q4:
Atherosclerosis is the main cause of cardiovascular diseases, which in turn are the leading cause of mortality worldwide. The immune cellular composition of the atherosclerotic plaque has long been considered to be a major determining factor for symptomatic disease: by performing single cell transcriptional profiling, we aim to reveal the degree of heterogeneity and variability of cell composition in plaques among individuals and how this may be informative for plaque development and cardiovascular risk.
Ambra will speak about Investigating atherosclerosis progression through single-cell transcriptional profiling of immune cells of the atherosclerotic plaque in the session Cardiovascular disorders at 13:00 hrs.
11/08/1989 Cattolica, Italy
Q2:
PhD student at the Department of Genetic Medicine and Development, University of Geneva
Q3:
I believe biology is the melting pot of science: it combines physics, chemistry, math, helping us to make a puzzle of the surrounding world. Genetics has always fascinated me because is the key to understand the underlying mechanisms in health and disease and how human beings and all the other species evolved and adapted to an environment that is constantly changing.
Q4:
Atherosclerosis is the main cause of cardiovascular diseases, which in turn are the leading cause of mortality worldwide. The immune cellular composition of the atherosclerotic plaque has long been considered to be a major determining factor for symptomatic disease: by performing single cell transcriptional profiling, we aim to reveal the degree of heterogeneity and variability of cell composition in plaques among individuals and how this may be informative for plaque development and cardiovascular risk.
Ambra will speak about Investigating atherosclerosis progression through single-cell transcriptional profiling of immune cells of the atherosclerotic plaque in the session Cardiovascular disorders at 13:00 hrs.
Q1:
April 26, 1992 – Grenoble (France)
Q2:
I am currently a PhD student in Lausanne, Switzerland, under the supervision of Prof. Zoltán Kutalik. My main project aims at identifying new loci associated with lifespan using a Bayesian approach that includes prior information from known age-related disease genetics.
Q3:
I have always been particularly attracted to statistics and how they can be used to extract relevant information from biological datasets. I am more specifically interested in how the analysis of genetic data can foster the discovery of new solutions for health-related concerns, both for complex traits and rare diseases.
Q4:
Our Bayesian GWAS approach leverages information from risk factors to estimate prior effects using a multivariate Mendelian Randomisation model. By comparing prior and observed effects, it allows us to increase power without increasing sample size. This approach can also facilitate results interpretation by determining through which risk factors a locus is affecting the focal trait.
Ninon will speak about Leveraging correlated risks to increase power in Genome-Wide Association Studies in the session Statistical and population genetics at 13:00 hrs.
April 26, 1992 – Grenoble (France)
Q2:
I am currently a PhD student in Lausanne, Switzerland, under the supervision of Prof. Zoltán Kutalik. My main project aims at identifying new loci associated with lifespan using a Bayesian approach that includes prior information from known age-related disease genetics.
Q3:
I have always been particularly attracted to statistics and how they can be used to extract relevant information from biological datasets. I am more specifically interested in how the analysis of genetic data can foster the discovery of new solutions for health-related concerns, both for complex traits and rare diseases.
Q4:
Our Bayesian GWAS approach leverages information from risk factors to estimate prior effects using a multivariate Mendelian Randomisation model. By comparing prior and observed effects, it allows us to increase power without increasing sample size. This approach can also facilitate results interpretation by determining through which risk factors a locus is affecting the focal trait.
Ninon will speak about Leveraging correlated risks to increase power in Genome-Wide Association Studies in the session Statistical and population genetics at 13:00 hrs.
Q1:
Born April 7th, 1990, in Heerlen, the Netherlands.
Q2:
I completed my PhD in November 2016, and my MD in January 2019. Currently, I am working as a resident in Clinical Genetics for 50% and doing genetics research as an Assistant Professor for 50%, both the Erasmus MC University Medical Center in Rotterdam, the Netherlands.
Q3:
I didn’t. I was always intrigued by the brain and wanted to go into Neuroscience/Neurology/Neurosurgery. However, during the brain-related research and clinical work, I became drawn to the genetic aspects. Since then genetics has become the center of my career.
Q4:
Genome-wide association studies have changed the field of genetics in the past 15 years, with the number of studies and identified loci skyrocketing. The work I am presenting here at ESHG is interesting for several reasons. First, it is a tour-de-force in which 1.5 million genome-wide association studies were performed, several orders of magnitude more than the whole of the current literature combined. Second, the 1.5 million phenotypes are measures of brain structure, which give an extremely detailed view of what the brain looks like. Despite the tremendous multiple testing correction, we were able to identify dozens of loci within a relatively small meta-analysis, which sends a clear message of “better phenotyping” rather than only “bigger sample sizes”. Third, the results could be reused by other researchers in many ways, so I’m very grateful to being able to present this at a big platform such as ESHG.
Hieab will speak about One and a half million genome wide-association studies of brain morphometry: a proof-of-concept study in the session Statistical and population genetics at 13:00 hrs.
Born April 7th, 1990, in Heerlen, the Netherlands.
Q2:
I completed my PhD in November 2016, and my MD in January 2019. Currently, I am working as a resident in Clinical Genetics for 50% and doing genetics research as an Assistant Professor for 50%, both the Erasmus MC University Medical Center in Rotterdam, the Netherlands.
Q3:
I didn’t. I was always intrigued by the brain and wanted to go into Neuroscience/Neurology/Neurosurgery. However, during the brain-related research and clinical work, I became drawn to the genetic aspects. Since then genetics has become the center of my career.
Q4:
Genome-wide association studies have changed the field of genetics in the past 15 years, with the number of studies and identified loci skyrocketing. The work I am presenting here at ESHG is interesting for several reasons. First, it is a tour-de-force in which 1.5 million genome-wide association studies were performed, several orders of magnitude more than the whole of the current literature combined. Second, the 1.5 million phenotypes are measures of brain structure, which give an extremely detailed view of what the brain looks like. Despite the tremendous multiple testing correction, we were able to identify dozens of loci within a relatively small meta-analysis, which sends a clear message of “better phenotyping” rather than only “bigger sample sizes”. Third, the results could be reused by other researchers in many ways, so I’m very grateful to being able to present this at a big platform such as ESHG.
Hieab will speak about One and a half million genome wide-association studies of brain morphometry: a proof-of-concept study in the session Statistical and population genetics at 13:00 hrs.
Q1:
December 23rd 1990, Tallinn, Estonia
Q2:
PhD student and bioinformatics specialist at University of Tartu
Q3:
I enjoy solving puzzles and finding “hidden messages” from datasets, especially if it comes with a chance to improve public health. Happily, the beginning of my career coincided with the early days of personalized medicine project in Estonia, which enables applying scientific discoveries to healthcare very quickly.
Q4:
CNV detection and analyses remain challenging. To my knowledge, we are the first to use several multi-omics layers simultaneously to assess CNV quality and, by doing so, optimize the association analyses. Thus, we are now able to detect associations for which we previously lacked statistical power.
Maarja will speak about Genome-wide copy number variant association study reveals several novel disease-associated loci in the session Statistical and population genetics at 13:00 hrs.
December 23rd 1990, Tallinn, Estonia
Q2:
PhD student and bioinformatics specialist at University of Tartu
Q3:
I enjoy solving puzzles and finding “hidden messages” from datasets, especially if it comes with a chance to improve public health. Happily, the beginning of my career coincided with the early days of personalized medicine project in Estonia, which enables applying scientific discoveries to healthcare very quickly.
Q4:
CNV detection and analyses remain challenging. To my knowledge, we are the first to use several multi-omics layers simultaneously to assess CNV quality and, by doing so, optimize the association analyses. Thus, we are now able to detect associations for which we previously lacked statistical power.
Maarja will speak about Genome-wide copy number variant association study reveals several novel disease-associated loci in the session Statistical and population genetics at 13:00 hrs.
Q1:
22nd of March, 1993 in Dublin, Ireland.
Q2:
PhD student
Q3:
The field of human genetics is growing rapidly in exciting ways and I want to be involved in this growth. I see huge potential in the emerging wealth of genomic data and novel methods for answering important questions about human population history and the genetic architecture of complex traits.
Q4:
Our research reveals the subtle regional population structure that exists in the Dutch population, and characterises patterns of growth and migration in recent generations. We believe that building an understanding of these features in populations is important both for general interest and for correctly designing and performing genetic association studies.
Ross will speak about Fine-scale population structure and demographic change through time and space in the Netherlands in the session Statistical and population genetics at 13:00 hrs.
22nd of March, 1993 in Dublin, Ireland.
Q2:
PhD student
Q3:
The field of human genetics is growing rapidly in exciting ways and I want to be involved in this growth. I see huge potential in the emerging wealth of genomic data and novel methods for answering important questions about human population history and the genetic architecture of complex traits.
Q4:
Our research reveals the subtle regional population structure that exists in the Dutch population, and characterises patterns of growth and migration in recent generations. We believe that building an understanding of these features in populations is important both for general interest and for correctly designing and performing genetic association studies.
Ross will speak about Fine-scale population structure and demographic change through time and space in the Netherlands in the session Statistical and population genetics at 13:00 hrs.
Q1:
July 13, in Nuremberg, Germany
Q2:
PhD student
Q3:
Biology in general is a very interesting field of research, and genetics in particular combines the excitement of basic research with the ability to contribute to the improvement of quality of life of patients.
Q4:
I am presenting our research about the chromatin organizer CTCF and its role in neurodevelopment. We significantly broaden the mutational and clinical spectrum of CTCF-associated neurodevelopmental disorders. Our data shed light onto the functional role of CTCF by identifying deregulated genes and show that Ctcf alterations result in nervous system defects in Drosophila.
Enrico will speak about CTCF variants in 31 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum in the session Intellectual Disability at 13:00 hrs.
July 13, in Nuremberg, Germany
Q2:
PhD student
Q3:
Biology in general is a very interesting field of research, and genetics in particular combines the excitement of basic research with the ability to contribute to the improvement of quality of life of patients.
Q4:
I am presenting our research about the chromatin organizer CTCF and its role in neurodevelopment. We significantly broaden the mutational and clinical spectrum of CTCF-associated neurodevelopmental disorders. Our data shed light onto the functional role of CTCF by identifying deregulated genes and show that Ctcf alterations result in nervous system defects in Drosophila.
Enrico will speak about CTCF variants in 31 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum in the session Intellectual Disability at 13:00 hrs.
Q1:
24 April 1987, Sneek, the Netherlands
Q2:
PhD student
Q3:
Since I had my first classes about DNA and Mendelian inheritance, I’m fascinated by genetics… I love the complexity of the molecular mechanisms, and as a medical doctor it is very rewarding to be able to bring new knowledge and new techniques directly to the clinic, and vice versa to use the clinical findings in new research projects and bring them to the lab. All in all, I cannot think of any better field in science/medicine to work in!
Q4:
At the conference I will present about one of my projects, in which we show that rare germline variants in a very well-known transcription factor in brain development (POU3F3, also known as Brain-1) can cause a neurodevelopmental disorder. We characterize this new disorder at a molecular and clinical level, and it is very interesting to see what the result is of these POU3F3 variants on the function of the encoded protein, and how this relates to the associated phenotype.
24 April 1987, Sneek, the Netherlands
Q2:
PhD student
Q3:
Since I had my first classes about DNA and Mendelian inheritance, I’m fascinated by genetics… I love the complexity of the molecular mechanisms, and as a medical doctor it is very rewarding to be able to bring new knowledge and new techniques directly to the clinic, and vice versa to use the clinical findings in new research projects and bring them to the lab. All in all, I cannot think of any better field in science/medicine to work in!
Q4:
At the conference I will present about one of my projects, in which we show that rare germline variants in a very well-known transcription factor in brain development (POU3F3, also known as Brain-1) can cause a neurodevelopmental disorder. We characterize this new disorder at a molecular and clinical level, and it is very interesting to see what the result is of these POU3F3 variants on the function of the encoded protein, and how this relates to the associated phenotype.
Lot will speak about De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder in the session Intellectual Disability at 13:00 hrs.
Q1:
23 November, 1991 in Jiangsu, China
Q2:
PhD student
Q3:
Messages behind ATCG really matter for our health and disease.
Q4:
While the human genome is set at birth, the gut microbiome can undergo dynamic changes over the course of an individual’s life. Here, we found that temporal changes in the human gut microbiome can be driven by environmental exposures (e.g. medicine use) and may affect host health (e.g. BMI).
Lianmin will speak about Longitudinal analysis of the gut microbiome reveals dynamic changes in relation to medications & phenotypes in the session Pharmacogenomics at 13:00 hrs.
23 November, 1991 in Jiangsu, China
Q2:
PhD student
Q3:
Messages behind ATCG really matter for our health and disease.
Q4:
While the human genome is set at birth, the gut microbiome can undergo dynamic changes over the course of an individual’s life. Here, we found that temporal changes in the human gut microbiome can be driven by environmental exposures (e.g. medicine use) and may affect host health (e.g. BMI).
Lianmin will speak about Longitudinal analysis of the gut microbiome reveals dynamic changes in relation to medications & phenotypes in the session Pharmacogenomics at 13:00 hrs.
Q1:
September 1989, Brussels (but grew up mostly in Cape Town, South Africa!).
Q2:
I am a physician and DPhil (PhD) candidate at the Big Data Institute, University of Oxford.
Q3:
Our growing understanding of human genetics will profoundly alter the way in which we practice medicine in the coming decades. I am pursuing a career in translational genetics, at the interface of clinical medicine and human genetics, to help fulfil the promise that genetics holds for human health.
Q4:
A new drug being developed for the treatment of osteoporosis has been shown to reduce the risk of fracture but also to increase the risk of adverse cardiovascular events. Cardiovascular event rates in clinical trials were however too low to draw definitive conclusions. We used genetic variants that mimic the effect of this drug to show that the cardiovascular effect is likely to be real and target-mediated, and that modulation of this drug target may also influence a range of cardiovascular risk factors, including blood pressure, diabetes and adiposity. This illustrates how large-scale human genetic data can be used to predict the effects of drug target modulation.
Jonas will speak about Lifelong genetically lowered sclerostin and risk of cardiovascular disease in the session Pharmacogenomics at 13:00 hrs.
September 1989, Brussels (but grew up mostly in Cape Town, South Africa!).
Q2:
I am a physician and DPhil (PhD) candidate at the Big Data Institute, University of Oxford.
Q3:
Our growing understanding of human genetics will profoundly alter the way in which we practice medicine in the coming decades. I am pursuing a career in translational genetics, at the interface of clinical medicine and human genetics, to help fulfil the promise that genetics holds for human health.
Q4:
A new drug being developed for the treatment of osteoporosis has been shown to reduce the risk of fracture but also to increase the risk of adverse cardiovascular events. Cardiovascular event rates in clinical trials were however too low to draw definitive conclusions. We used genetic variants that mimic the effect of this drug to show that the cardiovascular effect is likely to be real and target-mediated, and that modulation of this drug target may also influence a range of cardiovascular risk factors, including blood pressure, diabetes and adiposity. This illustrates how large-scale human genetic data can be used to predict the effects of drug target modulation.
Jonas will speak about Lifelong genetically lowered sclerostin and risk of cardiovascular disease in the session Pharmacogenomics at 13:00 hrs.
Q1:
I was born on November 30th of 1993 in Madrid (Spain)
Q2:
I am a predoctoral student under the supervision of Dr. Rodriguez-Antona in the Hereditary Endocrine Cancer group at the Spanish National Cancer Research Center (CNIO). Our group is mainly aimed to identify genetic risk factors involved in endocrine tumors susceptibility together with genetic markers associated with differences in anticancer drug response and toxicity.
Q3:
Genetics has always fascinated me. Most of what we are is written in our genes therefore being able to read and interpret genetic information get us to know ourselves better. Genetics in medicine has dramatically changed the way we understand disease and it has opened a wide variety of new possibilities for improving the management of patients moving us closer to personalized medicine. From the bench, I want to contribute to this revolution.
Q4:
Survival of metastatic renal cell carcinoma (mRCC) patients has doubled in the last decades with the approval of targeted drugs and recently immunotherapies, however treatment responses are still very heterogeneous and we lack of predictive biomarkers to stratify patients. In this context, our research has identify for the first time mutations in the gen KDM5C as a biomarker of improved anti-angiogenics response edging closer to personalized medicine for patients with mRCC.
I was born on November 30th of 1993 in Madrid (Spain)
Q2:
I am a predoctoral student under the supervision of Dr. Rodriguez-Antona in the Hereditary Endocrine Cancer group at the Spanish National Cancer Research Center (CNIO). Our group is mainly aimed to identify genetic risk factors involved in endocrine tumors susceptibility together with genetic markers associated with differences in anticancer drug response and toxicity.
Q3:
Genetics has always fascinated me. Most of what we are is written in our genes therefore being able to read and interpret genetic information get us to know ourselves better. Genetics in medicine has dramatically changed the way we understand disease and it has opened a wide variety of new possibilities for improving the management of patients moving us closer to personalized medicine. From the bench, I want to contribute to this revolution.
Q4:
Survival of metastatic renal cell carcinoma (mRCC) patients has doubled in the last decades with the approval of targeted drugs and recently immunotherapies, however treatment responses are still very heterogeneous and we lack of predictive biomarkers to stratify patients. In this context, our research has identify for the first time mutations in the gen KDM5C as a biomarker of improved anti-angiogenics response edging closer to personalized medicine for patients with mRCC.
Maria will speak about Advanced renal cancer patients with tumor KDM5C mutations show improved response to anti-angiogenic therapy in the session Pharmacogenomics at 13:00 hrs.
Q1:
24th September 1986, Berlin, Germany
Q2:
postdoctoral research fellow
Q3:
I was already fascinated by natural sciences at school. Then the experience of doing research on genetics of tame and aggressive behavior in animals during my doctoral thesis in Svante Pääbos lab won me over to genetics.
Q4:
We introduce a statistical model that can classify missense variants as loss-of-function, gain-of-function or neutral in the clinically relevant gene family of voltage-gated sodium and calcium channels. In the ion channels, there have already been successful examples of tailored treatments to genetic defects e.g. treatment with sodium channel blocker is successful for gain-, but not loss-of-function variants in SCN2A. So ultimately, this work could enhance precision medicine.
Henrike will speak about Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium Channels in the session Pharmacogenomics at 13:00 hrs.
24th September 1986, Berlin, Germany
Q2:
postdoctoral research fellow
Q3:
I was already fascinated by natural sciences at school. Then the experience of doing research on genetics of tame and aggressive behavior in animals during my doctoral thesis in Svante Pääbos lab won me over to genetics.
Q4:
We introduce a statistical model that can classify missense variants as loss-of-function, gain-of-function or neutral in the clinically relevant gene family of voltage-gated sodium and calcium channels. In the ion channels, there have already been successful examples of tailored treatments to genetic defects e.g. treatment with sodium channel blocker is successful for gain-, but not loss-of-function variants in SCN2A. So ultimately, this work could enhance precision medicine.
Henrike will speak about Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium Channels in the session Pharmacogenomics at 13:00 hrs.
These authors will present on Monday, June 17
Q1:
06.11.1992 in Gijón, Asturias (Spain).
Q2:
I am a PhD student at Expression Regulation in Cancer group headed by Carla Oliveira at IPATIMUP, Porto (Portugal). I am working on the genetically unsolved patients with hereditary diffuse gastric cancer. In cooperation with the University of Cambridge and the Radboud University of Nijmegen, within the Solve-RD consortium, we expect to find the missing heritability in this deadly syndrome.
Q3:
The first disciplines related to genetics that I was able to attend, led me to understand that the only way to prevent genetic disorders arise from the knowledge on the inherited cause. Since then, this idea motivated me to develop my career on genetic research.
Thanks to research and practice in genetics, it is now possible to prevent many pathologies, with a very high impact in patients’ diagnosis and survival. For all these reasons, I find the scientific research and concretely the project that I am developing in my PhD, so exciting and promising.
Q4:
In this project, we explored the phenotypic landscape of a European-cohort of CDH1 mutation-carriers, to demonstrate the value of genetic testing driven by phenotype and clinical criteria. We were able to compile, in the same database, most of the families carrying CDH1 mutations, either identified by members of the European Reference Network on hereditary tumour risk syndromes -GENTURIS- or other national partners interested in CDH1-related diseases. Our collaborative work will increase the knowledge on CDH1-related diseases, helping geneticists and researchers, through the development of shared resources to improve data sharing and collaboration in the field of hereditary diffuse gastric cancer associated with CDH1 germline defects.
José will speak about European Landscape of CDH1 germline mutations: a new tool to understand hereditary diffuse gastric cancer (HDGC) in the session Personalized and predictive medicine at 13:00 hrs.
06.11.1992 in Gijón, Asturias (Spain).
Q2:
I am a PhD student at Expression Regulation in Cancer group headed by Carla Oliveira at IPATIMUP, Porto (Portugal). I am working on the genetically unsolved patients with hereditary diffuse gastric cancer. In cooperation with the University of Cambridge and the Radboud University of Nijmegen, within the Solve-RD consortium, we expect to find the missing heritability in this deadly syndrome.
Q3:
The first disciplines related to genetics that I was able to attend, led me to understand that the only way to prevent genetic disorders arise from the knowledge on the inherited cause. Since then, this idea motivated me to develop my career on genetic research.
Thanks to research and practice in genetics, it is now possible to prevent many pathologies, with a very high impact in patients’ diagnosis and survival. For all these reasons, I find the scientific research and concretely the project that I am developing in my PhD, so exciting and promising.
Q4:
In this project, we explored the phenotypic landscape of a European-cohort of CDH1 mutation-carriers, to demonstrate the value of genetic testing driven by phenotype and clinical criteria. We were able to compile, in the same database, most of the families carrying CDH1 mutations, either identified by members of the European Reference Network on hereditary tumour risk syndromes -GENTURIS- or other national partners interested in CDH1-related diseases. Our collaborative work will increase the knowledge on CDH1-related diseases, helping geneticists and researchers, through the development of shared resources to improve data sharing and collaboration in the field of hereditary diffuse gastric cancer associated with CDH1 germline defects.
José will speak about European Landscape of CDH1 germline mutations: a new tool to understand hereditary diffuse gastric cancer (HDGC) in the session Personalized and predictive medicine at 13:00 hrs.
Q1:
January 6, 1987 – Hoorn, the Netherlands
Q2:
PhD student at the Human Genetics department in the Leiden University Medical Center
Q3:
While studying Biomedical Sciences, I was inspired by a course in Clinical Genetics and decided to take up Medicine as well. The combination of molecular biology, geno-phenotype relation, and the psychosocial impact on patients and their families makes clinical genetics a challenging and interesting field. As a clinician I have counselled breast cancer families and have been confronted with the current limitations in the clinic in explaining the cause of this disease in the family.
Q4:
Just a minority of the breast cancer families can be given a genetic explanation, and therefore risk management is mainly based on the family history in these families. In the last decade, Genome Wide Association Studies have discovered many breast cancer associated SNPs. By combining all these SNPs together in a Polygenic Risk Score, up to 34% of the non-BRCA1/2 familial breast cancer cases would have received other screening advise. Partly because of these findings, we are now going towards clinical implementation of the PRS to give more precise individual risk estimation to breast cancer families.
Inge will speak about Clinical applicability of the 313-SNP based polygenic risk score for breast cancer risk prediction in the session Personalized and predictive medicine at 13:00 hrs.
January 6, 1987 – Hoorn, the Netherlands
Q2:
PhD student at the Human Genetics department in the Leiden University Medical Center
Q3:
While studying Biomedical Sciences, I was inspired by a course in Clinical Genetics and decided to take up Medicine as well. The combination of molecular biology, geno-phenotype relation, and the psychosocial impact on patients and their families makes clinical genetics a challenging and interesting field. As a clinician I have counselled breast cancer families and have been confronted with the current limitations in the clinic in explaining the cause of this disease in the family.
Q4:
Just a minority of the breast cancer families can be given a genetic explanation, and therefore risk management is mainly based on the family history in these families. In the last decade, Genome Wide Association Studies have discovered many breast cancer associated SNPs. By combining all these SNPs together in a Polygenic Risk Score, up to 34% of the non-BRCA1/2 familial breast cancer cases would have received other screening advise. Partly because of these findings, we are now going towards clinical implementation of the PRS to give more precise individual risk estimation to breast cancer families.
Inge will speak about Clinical applicability of the 313-SNP based polygenic risk score for breast cancer risk prediction in the session Personalized and predictive medicine at 13:00 hrs.
Q1:
May 4, 1991, Finland
Q2:
Postdoctoral researcher at the Institute for Molecular Medicine Finland (FIMM)
Q3:
With a formal education in both medicine and statistics, genomics felt like a specially compelling field for me. As many research questions now involve implementation and integration of genomics into routine clinical practice, I want to be involved in conducting the research for informed evidence-based guidelines and clinical practices of the future.
Q4:
Prior to our study, few have assessed polygenic risk scores (PRS) alongside clinical risk factors in a population-based setting reflecting disease prevalences in the population. With up to 23 years of follow-up, we show that a high PRS contributes to a considerable shift towards an earlier disease onset, and that PRSs complement routinely used clinical risk calculators particularly by improving identification of individuals at risk for early-onset disease. I believe that future implementation of these approaches has the potential to change the way we think about complex disease prevention and screening in the future – a shift from one size fits all approaches to a more stratified prevention.
Nina will speak about High polygenic risk contributes to an early disease onset in common cardiometabolic diseases and cancers in the session Personalized and predictive medicine at 13:00 hrs.
May 4, 1991, Finland
Q2:
Postdoctoral researcher at the Institute for Molecular Medicine Finland (FIMM)
Q3:
With a formal education in both medicine and statistics, genomics felt like a specially compelling field for me. As many research questions now involve implementation and integration of genomics into routine clinical practice, I want to be involved in conducting the research for informed evidence-based guidelines and clinical practices of the future.
Q4:
Prior to our study, few have assessed polygenic risk scores (PRS) alongside clinical risk factors in a population-based setting reflecting disease prevalences in the population. With up to 23 years of follow-up, we show that a high PRS contributes to a considerable shift towards an earlier disease onset, and that PRSs complement routinely used clinical risk calculators particularly by improving identification of individuals at risk for early-onset disease. I believe that future implementation of these approaches has the potential to change the way we think about complex disease prevention and screening in the future – a shift from one size fits all approaches to a more stratified prevention.
Nina will speak about High polygenic risk contributes to an early disease onset in common cardiometabolic diseases and cancers in the session Personalized and predictive medicine at 13:00 hrs.
Q1:
I was born June 20, 1989 in Mississauga, Ontario, Canada.
Q2:
I am a Canadian and American Board-Certified Genetic Counsellor. In my current position at Medcan Genetics in Toronto, Canada, I meet with adult patients to provide risk assessment and pre- and post-test genetic counselling for testing options including proactive genetic screening, pharmacogenomic testing, prenatal screening, and expanded carrier screening.
Q3:
As a genetic counsellor, I have the privilege of connecting with a diverse range of people to help make the fascinating and ever-evolving science of genetics accessible to them. I love helping people understand how genetic information can empower them to improve health outcomes for themselves and their family members.
Q4:
I am passionate about increasing access to genetic information that can improve health outcomes. Our research gives compelling early evidence supporting population-wide screening for actionable adult-onset hereditary predispositions, as an alternative to the current approach of offering publicly-funded genetic testing based only on specific limited personal and family history criteria.
Heather will speak about Clinically actionable results from a multi-gene screening panel in an unselected “healthy” Canadian population in the session Personalized and predictive medicine at 13:00 hrs.
I was born June 20, 1989 in Mississauga, Ontario, Canada.
Q2:
I am a Canadian and American Board-Certified Genetic Counsellor. In my current position at Medcan Genetics in Toronto, Canada, I meet with adult patients to provide risk assessment and pre- and post-test genetic counselling for testing options including proactive genetic screening, pharmacogenomic testing, prenatal screening, and expanded carrier screening.
Q3:
As a genetic counsellor, I have the privilege of connecting with a diverse range of people to help make the fascinating and ever-evolving science of genetics accessible to them. I love helping people understand how genetic information can empower them to improve health outcomes for themselves and their family members.
Q4:
I am passionate about increasing access to genetic information that can improve health outcomes. Our research gives compelling early evidence supporting population-wide screening for actionable adult-onset hereditary predispositions, as an alternative to the current approach of offering publicly-funded genetic testing based only on specific limited personal and family history criteria.
Heather will speak about Clinically actionable results from a multi-gene screening panel in an unselected “healthy” Canadian population in the session Personalized and predictive medicine at 13:00 hrs.
Q1:
I was born on the 23rd September of 1994 in the city of Matosinhos (Portugal).
Q2:
I am currently a research fellow in the Expression Regulation in Cancer Group led by Dra. Carla Oliveira.
Q3:
Since my bachelor’s degree in Biochemistry at the Faculty of Sciences of the University of Porto, I was always very keen about molecular biology and human genetics. For this reason, I tried to expand my knowledge in these areas which led me to do my master’s thesis project in Carla Oliveira’s lab studying the CDH1 gene and its intricate association with Hereditary Diffuse Gastric Cancer syndrome. During this period I became fascinated about the complex impact of gene expression regulation on the development and causes of cancer. Moreover, my thesis project awaken my interest in genotype-phenotype correlations, which I want to explore in the future. In fact, I was so passionate about Human Genetics that I chose to pursue a PhD project in this area.
Q4:
The study of non-coding regions of the DNA, previously considered as “junk”, has revealed the role of non-coding variants in human disease. As an attempt to look beyond the exome, the work that I am presenting at the conference focus on the study of the E-cadherin (CDH1) gene, specifically with the purpose of understanding the importance of its intronic regions and their association with Hereditary Diffuse Gastric Cancer (HDGC). We narrowed down regions within CDH1 intronic regions able to control CDH1/E-Cadherin expression and function. Therefore, besides its contribution for the study of HDGC susceptibility, this work strengthens the functional impact of introns opposing to the exome-centered view adopted over the past decades.
Rita will speak about Structural variations at CDH1 intronic cis-regulatory elements cause CDH1/E-cadherin loss of function in the session Genetic mechanisms in cancer at 13:00 hrs.
I was born on the 23rd September of 1994 in the city of Matosinhos (Portugal).
Q2:
I am currently a research fellow in the Expression Regulation in Cancer Group led by Dra. Carla Oliveira.
Q3:
Since my bachelor’s degree in Biochemistry at the Faculty of Sciences of the University of Porto, I was always very keen about molecular biology and human genetics. For this reason, I tried to expand my knowledge in these areas which led me to do my master’s thesis project in Carla Oliveira’s lab studying the CDH1 gene and its intricate association with Hereditary Diffuse Gastric Cancer syndrome. During this period I became fascinated about the complex impact of gene expression regulation on the development and causes of cancer. Moreover, my thesis project awaken my interest in genotype-phenotype correlations, which I want to explore in the future. In fact, I was so passionate about Human Genetics that I chose to pursue a PhD project in this area.
Q4:
The study of non-coding regions of the DNA, previously considered as “junk”, has revealed the role of non-coding variants in human disease. As an attempt to look beyond the exome, the work that I am presenting at the conference focus on the study of the E-cadherin (CDH1) gene, specifically with the purpose of understanding the importance of its intronic regions and their association with Hereditary Diffuse Gastric Cancer (HDGC). We narrowed down regions within CDH1 intronic regions able to control CDH1/E-Cadherin expression and function. Therefore, besides its contribution for the study of HDGC susceptibility, this work strengthens the functional impact of introns opposing to the exome-centered view adopted over the past decades.
Rita will speak about Structural variations at CDH1 intronic cis-regulatory elements cause CDH1/E-cadherin loss of function in the session Genetic mechanisms in cancer at 13:00 hrs.
Q1:
April 29, 1993 inEvreux, France
Q2:
PhD Student
Laëtitia will speak about Skipping nonsense to maintain function: the paradigm of BRCA2 exon 12 in the session Genetic mechanisms in cancer at 13:00 hrs.
April 29, 1993 inEvreux, France
Q2:
PhD Student
Laëtitia will speak about Skipping nonsense to maintain function: the paradigm of BRCA2 exon 12 in the session Genetic mechanisms in cancer at 13:00 hrs.
Q1:
16.11.1991 New Delhi
Q2:
PhD student at the Hannover Medical School, Germany
Q3:
Wonderful teachers and a keen interest in biology and mathematics shaped my interest in Genetics and heritability. A background in Biochemistry/Biomedicine and various research internships reassured me that this was slightly more than a passing interest and I grew passionate about my work with time. I was excited to begin my PhD on a cervical cancer GWAS, and after slightly more than 2 years of challenges and immense learning, I thoroughly enjoy my everyday work and hope to contribute substantially to the field and fulfill my scientific curiosity.
Q4:
Previously, gene-based studies have implicated HLA, p53 and AKT pathway genes in Cervical cancer susceptibility with altered host immune response leading to progressive disease. Our GWAS, in the German population, provides mild evidence for some of these loci and also identifies a potential new locus for further investigation. In parallel, supplementary bioinformatic analyses indicate an underlying genetic component to invasive cervical cancer.
Dhanya will speak about Genome-wide association study identifies pathways associated with cervical cancer risk in the session Genetic mechanisms in cancer at 13:00 hrs.
16.11.1991 New Delhi
Q2:
PhD student at the Hannover Medical School, Germany
Q3:
Wonderful teachers and a keen interest in biology and mathematics shaped my interest in Genetics and heritability. A background in Biochemistry/Biomedicine and various research internships reassured me that this was slightly more than a passing interest and I grew passionate about my work with time. I was excited to begin my PhD on a cervical cancer GWAS, and after slightly more than 2 years of challenges and immense learning, I thoroughly enjoy my everyday work and hope to contribute substantially to the field and fulfill my scientific curiosity.
Q4:
Previously, gene-based studies have implicated HLA, p53 and AKT pathway genes in Cervical cancer susceptibility with altered host immune response leading to progressive disease. Our GWAS, in the German population, provides mild evidence for some of these loci and also identifies a potential new locus for further investigation. In parallel, supplementary bioinformatic analyses indicate an underlying genetic component to invasive cervical cancer.
Dhanya will speak about Genome-wide association study identifies pathways associated with cervical cancer risk in the session Genetic mechanisms in cancer at 13:00 hrs.
Q1:
June 25 1988 London, Ontario
Q2:
Post Doctoral Associate
Q3:
Genetics outlines the evolution and basis of life. By understanding the foundations in change you can by extension predict the course of various aspects of human life. For myself, I feel that rare genetic disorders allows me to use my personal interest in science to make a meaningful contribution to science and medicine by focusing on manipulation of genetic features to help those with rare conditions.
Q4:
This project focuses on metachromatic leukodystrophy (MLD), particularly peripheral nerve disease. While many researchers work on leukodystrophys, there is a gap in research in the field of the peripheral nervous system. Although treatment for MLD is not currently available, it is important when considering testing for treatments that we focus consideration on both the central nervous system and peripheral nervous system. Here I present data indicating that by targeting the peripheral system with viral vector, we are able to see a benefit to the peripheral nerve tissue.
June 25 1988 London, Ontario
Q2:
Post Doctoral Associate
Q3:
Genetics outlines the evolution and basis of life. By understanding the foundations in change you can by extension predict the course of various aspects of human life. For myself, I feel that rare genetic disorders allows me to use my personal interest in science to make a meaningful contribution to science and medicine by focusing on manipulation of genetic features to help those with rare conditions.
Q4:
This project focuses on metachromatic leukodystrophy (MLD), particularly peripheral nerve disease. While many researchers work on leukodystrophys, there is a gap in research in the field of the peripheral nervous system. Although treatment for MLD is not currently available, it is important when considering testing for treatments that we focus consideration on both the central nervous system and peripheral nervous system. Here I present data indicating that by targeting the peripheral system with viral vector, we are able to see a benefit to the peripheral nerve tissue.
Stephanie will speak about Viral vector therapy as a therapeutic option for peripheral nerve disease associated with metachromatic leukodystrophy. in the session Therapies at 13:00 hrs.
Q1:
January 13, 1987 – Paralimni, Cyprus
Q2:
I am a postdoctoral researcher in the department of Molecular Genetics Thalassaemia at The Cyprus Institute of Neurology and Genetics (CING)
Q3:
I have always been fascinated by the complexity of human biology and the role of genetics in the fine balance between health and disease. Genetics is one of the most rapidly evolving field of science and particularly now with the development of technologies such as next-generation sequencing and genome editing. I have chosen to pursue a career in the field of genetics since this area has great potentiality in translating research findings to the clinical setting.
Q4:
Our research work demonstrates that correction of the common HBBIVSI-110(G>A) β-thalassemia splice mutation may be achieved by efficient non-homologous end joining-mediated disruption of the aberrant regulatory elements created by the mutation, utilizing specific genome editing tools such as the CRISPR/Cas9 and TALENs. Importantly the high level of correction was achieved without enrichment, at low level of off-targeting and in a virus- and DNA-free delivery system in patient-derived CD34+ cells, indicating biosafety and efficiency suitable for direct clinical translation. In addition, our proposed mutation-specific gene therapy approach holds great potential for many human diseases caused by aberrant regulatory motifs, beyond the scope of β-thalassemia.
Petros will speak about Safe and efficient personalised TALEN- and CRISPR/Cas9-based gene correction therapy for β-thalassaemia by non-viral delivery to primary cells in the session Therapies at 13:00 hrs.
January 13, 1987 – Paralimni, Cyprus
Q2:
I am a postdoctoral researcher in the department of Molecular Genetics Thalassaemia at The Cyprus Institute of Neurology and Genetics (CING)
Q3:
I have always been fascinated by the complexity of human biology and the role of genetics in the fine balance between health and disease. Genetics is one of the most rapidly evolving field of science and particularly now with the development of technologies such as next-generation sequencing and genome editing. I have chosen to pursue a career in the field of genetics since this area has great potentiality in translating research findings to the clinical setting.
Q4:
Our research work demonstrates that correction of the common HBBIVSI-110(G>A) β-thalassemia splice mutation may be achieved by efficient non-homologous end joining-mediated disruption of the aberrant regulatory elements created by the mutation, utilizing specific genome editing tools such as the CRISPR/Cas9 and TALENs. Importantly the high level of correction was achieved without enrichment, at low level of off-targeting and in a virus- and DNA-free delivery system in patient-derived CD34+ cells, indicating biosafety and efficiency suitable for direct clinical translation. In addition, our proposed mutation-specific gene therapy approach holds great potential for many human diseases caused by aberrant regulatory motifs, beyond the scope of β-thalassemia.
Petros will speak about Safe and efficient personalised TALEN- and CRISPR/Cas9-based gene correction therapy for β-thalassaemia by non-viral delivery to primary cells in the session Therapies at 13:00 hrs.
Q1:
27.07.1990 Heilbronn
Q2:
PhD student
Q3:
I am very interested in the development of new treatment strategies for the Hutchinson-Gilford progeria syndrome (HGPS). In my research I am using a novel gene editing approach in order to reverse the most common point mutation causing HGPS with the interest to develop an efficient gene editing therapy for the clinic.
Q4:
I am presenting a very novel approach to treat the Hutchinson-Gilford progeria syndrome (HGPS) by precise gene editing. Using this novel technique we have the possibility to efficiently target and reverse the most common point mutation causing HGPS.
Daniel will speak about Therapeutic gene editing for Hutchinson-Gilford progeria syndrome in the session Therapies at 13:00 hrs.
27.07.1990 Heilbronn
Q2:
PhD student
Q3:
I am very interested in the development of new treatment strategies for the Hutchinson-Gilford progeria syndrome (HGPS). In my research I am using a novel gene editing approach in order to reverse the most common point mutation causing HGPS with the interest to develop an efficient gene editing therapy for the clinic.
Q4:
I am presenting a very novel approach to treat the Hutchinson-Gilford progeria syndrome (HGPS) by precise gene editing. Using this novel technique we have the possibility to efficiently target and reverse the most common point mutation causing HGPS.
Daniel will speak about Therapeutic gene editing for Hutchinson-Gilford progeria syndrome in the session Therapies at 13:00 hrs.
Q1:
25 October 1991, Siena, Italy
Q2:
PhD student at University of Siena
Q3:
During my university studies I became passionate about genetics, a discipline that I believe has a fundamental role in society because it allows reaching high levels in the study and understanding of rare diseases in order to improve the quality of life of affected patients.
Q4:
Rett syndrome is a severe neurodevelopmental disorder and no cure is yet available. In this work we present important results obtained with gene editing for a MECP2 hotspot mutation obtained with CRISPR/Cas9 technology. This research could represent a new tool for disease treatment.
25 October 1991, Siena, Italy
Q2:
PhD student at University of Siena
Q3:
During my university studies I became passionate about genetics, a discipline that I believe has a fundamental role in society because it allows reaching high levels in the study and understanding of rare diseases in order to improve the quality of life of affected patients.
Q4:
Rett syndrome is a severe neurodevelopmental disorder and no cure is yet available. In this work we present important results obtained with gene editing for a MECP2 hotspot mutation obtained with CRISPR/Cas9 technology. This research could represent a new tool for disease treatment.
Susanna will speak about High efficiency of CRISPR/Cas9 gene editing of T158Mhot spot mutation in MECP2 gene in the session Therapies at 13:00 hrs.
Q1:
July 24th, 1989, Västerås (Sweden)
Q2:
PhD Student in the Rare Diseases research group at Karolinska Institutet, Stockholm, Sweden
Q3:
I really like the detective work. Genetics in rare diseases is the most interesting research topic I can think of, the rare diseases are rare by themselves but as a group they are many. It is fascinating to investigate complex chromosomal rearrangements and a great feeling when I finally understand how everything is connected and can start to look for signatures of underlying formation mechanisms.
Q4:
There is limited knowledge of the genomics and biology of inversions, and my research here has focused on the underlying mechanisms of the formation of large chromosomal inversions that are visible on chromosome analysis. It has been suggested previously that most inversions are formed by ectopic recombination, so we wanted to investigate that. We used short-read whole-genome sequencing and were able to detect 11/16 (59%) of the inversions, of which all were mediated by other mechanisms than ectopic recombination. Inversions are per definition balanced, but in two cases we found copy number variants flanking the inversion, and both of these inversions were mediated by replication-based mechanisms.
Maria will speak about Cytogenetically detected chromosomal inversions are rarely formed by ectopic recombination between inverted repeats in the session From genome architecture to RNA biology at 13:00 hrs.
July 24th, 1989, Västerås (Sweden)
Q2:
PhD Student in the Rare Diseases research group at Karolinska Institutet, Stockholm, Sweden
Q3:
I really like the detective work. Genetics in rare diseases is the most interesting research topic I can think of, the rare diseases are rare by themselves but as a group they are many. It is fascinating to investigate complex chromosomal rearrangements and a great feeling when I finally understand how everything is connected and can start to look for signatures of underlying formation mechanisms.
Q4:
There is limited knowledge of the genomics and biology of inversions, and my research here has focused on the underlying mechanisms of the formation of large chromosomal inversions that are visible on chromosome analysis. It has been suggested previously that most inversions are formed by ectopic recombination, so we wanted to investigate that. We used short-read whole-genome sequencing and were able to detect 11/16 (59%) of the inversions, of which all were mediated by other mechanisms than ectopic recombination. Inversions are per definition balanced, but in two cases we found copy number variants flanking the inversion, and both of these inversions were mediated by replication-based mechanisms.
Maria will speak about Cytogenetically detected chromosomal inversions are rarely formed by ectopic recombination between inverted repeats in the session From genome architecture to RNA biology at 13:00 hrs.
Q1:
13-04-1994, 2200 Herentals, Belgium
Q2:
PhD student in the Laboratory for Cytogenetics and Genome Research (Prof. Joris R. Vermeesch), KU Leuven, Belgium
Q3:
Nowadays, genetic discoveries have not only an impact in the research field, but are of importance for the whole society. This social importance and (international) collaborations with clinicians and geneticists, make it a very valuable and rewarding field. Facing technical difficulties and unexpected outcomes keep it challenging.
Q4:
My research is focusing on the complex low copy repeats of chromosome 22. We developed a fiber-FISH method to map these repeats for the first time and revealed an extraordinary level of variability between individuals. This map provides a framework to close the remaining reference gaps, investigate transcript consequences, and scrutinize the genotype-phenotype relationship in 22q11.2 deletion syndrome.
Lisanne will speak about Optical mapping of 22q11.2 low copy repeats reveals structural hypervariability in the session From genome architecture to RNA biology at 13:00 hrs.
13-04-1994, 2200 Herentals, Belgium
Q2:
PhD student in the Laboratory for Cytogenetics and Genome Research (Prof. Joris R. Vermeesch), KU Leuven, Belgium
Q3:
Nowadays, genetic discoveries have not only an impact in the research field, but are of importance for the whole society. This social importance and (international) collaborations with clinicians and geneticists, make it a very valuable and rewarding field. Facing technical difficulties and unexpected outcomes keep it challenging.
Q4:
My research is focusing on the complex low copy repeats of chromosome 22. We developed a fiber-FISH method to map these repeats for the first time and revealed an extraordinary level of variability between individuals. This map provides a framework to close the remaining reference gaps, investigate transcript consequences, and scrutinize the genotype-phenotype relationship in 22q11.2 deletion syndrome.
Lisanne will speak about Optical mapping of 22q11.2 low copy repeats reveals structural hypervariability in the session From genome architecture to RNA biology at 13:00 hrs.
Q1:
04/11/1988, Neptune, New Jersey, USA
Q2:
PhD Student at New York University in the Vogel Lab
Q3:
While my academic career started in physics, it was a course in genetics that really piqued my interest during my studies. Understanding how differences in the genetic code leads to both drastic and subtle phenotypic effects that can cause disease is a question that I find fascinating.
Q4:
Non-coding regions in the genome have regulatory potential that is not well understood, and many of the rules of regulation remain undiscovered. Here we highlight a short element in the 5′ UTR of many genes that has largely gone unnoticed but may have an important role in translation regulation.
Justin will speak about Novel regulatory elements control translation of key stress response factors linked to disease in the session From genome architecture to RNA biology at 13:00 hrs.
04/11/1988, Neptune, New Jersey, USA
Q2:
PhD Student at New York University in the Vogel Lab
Q3:
While my academic career started in physics, it was a course in genetics that really piqued my interest during my studies. Understanding how differences in the genetic code leads to both drastic and subtle phenotypic effects that can cause disease is a question that I find fascinating.
Q4:
Non-coding regions in the genome have regulatory potential that is not well understood, and many of the rules of regulation remain undiscovered. Here we highlight a short element in the 5′ UTR of many genes that has largely gone unnoticed but may have an important role in translation regulation.
Justin will speak about Novel regulatory elements control translation of key stress response factors linked to disease in the session From genome architecture to RNA biology at 13:00 hrs.
Q1:
21st January, 1985. Colombia
Q2:
I am post-doctoral researcher at the Institute of Human Genetics of the University of Cologne (Germany).
Q3:
I always believed that Genetics is a fascinating field of study, as the DNA sequence harbors the blueprint that determines all living processes. I choose a career in human genetics because I want to contribute to the unraveling of genetic determinants of human disease and to the development of effective disease treatments. The characterization of novel disease genes encompasses a variety of fields including: genetics, biochemistry, medicine and cell biology. This multidisciplinary integration is the foundation of my scientific work and the pillar of my enthusiasm for human genetics research.
Q4:
Despite the wealth of genes known to cause distal hereditary motor neuropathies (dHMNs), at least 50% of the patients remain genetically unsolved, suggesting that novel mutations in an as-yet undiscovered genes await to be unmasked. At the conference I will be presenting our recent work on the Golgi protein GBF1, a novel candidate dHMN-causing gene. Our functional analyses indicate that GBF1 mutations cause Golgi fragmentation and potential disruption of the vesicular trafficking between this organelle and the endoplasmic reticulum.
I will also refer to how the late-onset phenotype of our patients challenged us during the variant interpretation process and how public variation databases may be misleading when the individuals show their first symptoms at later age. Moreover, this project also brought us some ethical issues, as we had to counsel the asymptomatic individuals of the GBF1 families and offer them genetic tests for a disease that may emerge anytime in their adult lives (with a 50% risk) and for which there is no available treatment.
Natalia will speak about Mutations in the Golgi protein GBF1 as a novel cause of distal hereditary motor neuropathy in the session Neuromuscular and neurodegenerative disorders at 13:00 hrs.
21st January, 1985. Colombia
Q2:
I am post-doctoral researcher at the Institute of Human Genetics of the University of Cologne (Germany).
Q3:
I always believed that Genetics is a fascinating field of study, as the DNA sequence harbors the blueprint that determines all living processes. I choose a career in human genetics because I want to contribute to the unraveling of genetic determinants of human disease and to the development of effective disease treatments. The characterization of novel disease genes encompasses a variety of fields including: genetics, biochemistry, medicine and cell biology. This multidisciplinary integration is the foundation of my scientific work and the pillar of my enthusiasm for human genetics research.
Q4:
Despite the wealth of genes known to cause distal hereditary motor neuropathies (dHMNs), at least 50% of the patients remain genetically unsolved, suggesting that novel mutations in an as-yet undiscovered genes await to be unmasked. At the conference I will be presenting our recent work on the Golgi protein GBF1, a novel candidate dHMN-causing gene. Our functional analyses indicate that GBF1 mutations cause Golgi fragmentation and potential disruption of the vesicular trafficking between this organelle and the endoplasmic reticulum.
I will also refer to how the late-onset phenotype of our patients challenged us during the variant interpretation process and how public variation databases may be misleading when the individuals show their first symptoms at later age. Moreover, this project also brought us some ethical issues, as we had to counsel the asymptomatic individuals of the GBF1 families and offer them genetic tests for a disease that may emerge anytime in their adult lives (with a 50% risk) and for which there is no available treatment.
Natalia will speak about Mutations in the Golgi protein GBF1 as a novel cause of distal hereditary motor neuropathy in the session Neuromuscular and neurodegenerative disorders at 13:00 hrs.
Q1:
24th April 1982 in Toledo, Spain.
Q2:
PhD Student at the Laboratory of Dr. Víctor Luis Ruiz Pérez in The Instituto de Investigaciones Biomédicas “Alberto Sols” (IIBM), a joint Research Center from the “Consejo Superior de Investigaciones Científicas (CSIC) and the Universidad Autónoma de Madrid (UAM).
Q3:
I have always liked the experimental part of life, I have always been very curious and I was fascinated to study the process leading to the discovery of practically anything. My interest in Genetics began at the secondary school when my teachers explained the experiments of Mendel with peas, I was amazed. Later, at the University I studied Biology and specialized in Genetics. I had great professors who transmitted their enthusiasm when explaining the wonderful world of the different branches of Genetics (Cytogenetics, Molecular Genetics, Microbial Genetics, population Genetics …). When I graduated I first started working in Plant Genetics and, although it did not displease me, I finally got to work in what I have always wanted, the Genetic basis of rare diseases, something that comes very close to me and that I consider to be critical in order to achieve that these diseases stop being the forgotten ones. I’ve always liked to think that in Genetics we can find our past, our present and our future.
Q4:
The research that I present at this conference is about the discovery of the genetic cause of a new type of congenital myopathy. The mutated gene has not previously been associated with any human pathology and the two pathogenic variants, so far identified, are located in an exon undergoing alternatively splicing. In this work, in addition to demonstrate the muscular pathology associated with these mutations, I also show both in a mouse model and in human primary cultured cells that one of the mutations results in the fabrication of an abnormal protein which accumulates in very characteristics ring-shaped cytoplasmic granules. These new cytoplasmic structures not only alter the myofibrillar pattern of the skeletal muscle but also appear to be capable to interfere with normal trafficking of mRNA. This is a demonstration of how basic research can help elucidate the why of a disease in humans and its application in the diagnosis of rare diseases.
Elisa will speak about Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy in the session Neuromuscular and neurodegenerative disorders at 13:00 hrs.
24th April 1982 in Toledo, Spain.
Q2:
PhD Student at the Laboratory of Dr. Víctor Luis Ruiz Pérez in The Instituto de Investigaciones Biomédicas “Alberto Sols” (IIBM), a joint Research Center from the “Consejo Superior de Investigaciones Científicas (CSIC) and the Universidad Autónoma de Madrid (UAM).
Q3:
I have always liked the experimental part of life, I have always been very curious and I was fascinated to study the process leading to the discovery of practically anything. My interest in Genetics began at the secondary school when my teachers explained the experiments of Mendel with peas, I was amazed. Later, at the University I studied Biology and specialized in Genetics. I had great professors who transmitted their enthusiasm when explaining the wonderful world of the different branches of Genetics (Cytogenetics, Molecular Genetics, Microbial Genetics, population Genetics …). When I graduated I first started working in Plant Genetics and, although it did not displease me, I finally got to work in what I have always wanted, the Genetic basis of rare diseases, something that comes very close to me and that I consider to be critical in order to achieve that these diseases stop being the forgotten ones. I’ve always liked to think that in Genetics we can find our past, our present and our future.
Q4:
The research that I present at this conference is about the discovery of the genetic cause of a new type of congenital myopathy. The mutated gene has not previously been associated with any human pathology and the two pathogenic variants, so far identified, are located in an exon undergoing alternatively splicing. In this work, in addition to demonstrate the muscular pathology associated with these mutations, I also show both in a mouse model and in human primary cultured cells that one of the mutations results in the fabrication of an abnormal protein which accumulates in very characteristics ring-shaped cytoplasmic granules. These new cytoplasmic structures not only alter the myofibrillar pattern of the skeletal muscle but also appear to be capable to interfere with normal trafficking of mRNA. This is a demonstration of how basic research can help elucidate the why of a disease in humans and its application in the diagnosis of rare diseases.
Elisa will speak about Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy in the session Neuromuscular and neurodegenerative disorders at 13:00 hrs.
Q1:
I was born in Stockholm, Sweden
Q2:
My current position is as a consultant in Clinical Genetics at the Karolinska University Hospital, with focus in diagnostics of rare genetic diseases such as neuromuscular and neurodevelopmental disorders.
Q3:
I chose a career in genetics because of the unique opportunity to combine working with patients and trying to understand the underlying pathophysiology at a molecular genetic level, with the ultimate goal of finding potential treatments.
Q4:
The research I am presenting at the conference is interesting because it concerns a completely novel pediatric ataxia disorder, caused by bi-allelic mutations in the gene NFASC. The mutations affect one of the gene transcripts (NF186) and our results elucidate the growing number of isoform-specific disorders.
Malin will speak about Absence of NFASC isoform NF186 causes an autosomal recessive ataxia syndrome in the session Neuromuscular and neurodegenerative disorders at 13:00 hrs.
I was born in Stockholm, Sweden
Q2:
My current position is as a consultant in Clinical Genetics at the Karolinska University Hospital, with focus in diagnostics of rare genetic diseases such as neuromuscular and neurodevelopmental disorders.
Q3:
I chose a career in genetics because of the unique opportunity to combine working with patients and trying to understand the underlying pathophysiology at a molecular genetic level, with the ultimate goal of finding potential treatments.
Q4:
The research I am presenting at the conference is interesting because it concerns a completely novel pediatric ataxia disorder, caused by bi-allelic mutations in the gene NFASC. The mutations affect one of the gene transcripts (NF186) and our results elucidate the growing number of isoform-specific disorders.
Malin will speak about Absence of NFASC isoform NF186 causes an autosomal recessive ataxia syndrome in the session Neuromuscular and neurodegenerative disorders at 13:00 hrs.
Q1:
December 07, 1989, Solingen, Germany
Q2:
I am a PhD student at the Department of Human Genetics, Hannover Medical School, Germany, in the lab of Prof. Dr. Ruthild Weber.
Q3:
I am fascinated by the complexity of the human genome, the exponentially increasing pace of new technologies in the field, the chance to gain insights into genetic disease mechanisms, and the possibility to translate our knowledge back into the clinic.
Q4:
The starting point of our study was a three year old patient with severe renal malformations in addition to multiple syndromic features. The genetic basis of most patients with congenital renal malformations remains unsolved, although some genes are associated with kidney anomalies when mutated. Using WES, we identified a missense variant in a gene known to cause a subtype of a syndrome for which renal anomalies have not been described as a hallmark. In addition to clinical data, we provide results of functional in vivo and in vitro studies suggesting an important role of the gene in nephrogenesis.
Helge will speak about Rare heterozygous deleterious GDF6 variants in patients with renal anomalies in the session Internal organs at 13:00 hrs.
December 07, 1989, Solingen, Germany
Q2:
I am a PhD student at the Department of Human Genetics, Hannover Medical School, Germany, in the lab of Prof. Dr. Ruthild Weber.
Q3:
I am fascinated by the complexity of the human genome, the exponentially increasing pace of new technologies in the field, the chance to gain insights into genetic disease mechanisms, and the possibility to translate our knowledge back into the clinic.
Q4:
The starting point of our study was a three year old patient with severe renal malformations in addition to multiple syndromic features. The genetic basis of most patients with congenital renal malformations remains unsolved, although some genes are associated with kidney anomalies when mutated. Using WES, we identified a missense variant in a gene known to cause a subtype of a syndrome for which renal anomalies have not been described as a hallmark. In addition to clinical data, we provide results of functional in vivo and in vitro studies suggesting an important role of the gene in nephrogenesis.
Helge will speak about Rare heterozygous deleterious GDF6 variants in patients with renal anomalies in the session Internal organs at 13:00 hrs.
Q1:
December 14, 1992 in Bordeaux, France
Q2:
PhD student, at the Imagine Institute in Paris (France)
Q3:
I have always been interested in genetics since high school. I have always been fascinated by the ways in which traits could be transmitted from one generation to the next one. When I learned how the genome encoded the information of how a full organism works, from its embryonic development to all other necessary physiological functions, I realized how passionate I was about this subject. Understanding the mechanisms of a genetic disease from the molecular to the full organism scale inspired me to pursue a PhD and a career in genetics.
Q4:
My project is at the intersection between genetics, cell biology and nephrology, and resulted in very promising discoveries. Usually, proteinuria (when proteins are found in urine) is considered to be a very damaging condition for the kidneys, as it often leads to end-stage renal disease which requires transplantation or dialysis. In our study, we reveal for the very first time a benign form of proteinuria and show even strong evidence that it could be a protective condition for the kidney. We are very excited about this discovery, as it could become a drug target to protect the kidneys with fewer systematic side effects than the therapies currently used.
Mathilda will speak about Novel C-terminal CUBN variants associate with chronic proteinuria and normal renal function in the session Internal organs at 13:00 hrs.
December 14, 1992 in Bordeaux, France
Q2:
PhD student, at the Imagine Institute in Paris (France)
Q3:
I have always been interested in genetics since high school. I have always been fascinated by the ways in which traits could be transmitted from one generation to the next one. When I learned how the genome encoded the information of how a full organism works, from its embryonic development to all other necessary physiological functions, I realized how passionate I was about this subject. Understanding the mechanisms of a genetic disease from the molecular to the full organism scale inspired me to pursue a PhD and a career in genetics.
Q4:
My project is at the intersection between genetics, cell biology and nephrology, and resulted in very promising discoveries. Usually, proteinuria (when proteins are found in urine) is considered to be a very damaging condition for the kidneys, as it often leads to end-stage renal disease which requires transplantation or dialysis. In our study, we reveal for the very first time a benign form of proteinuria and show even strong evidence that it could be a protective condition for the kidney. We are very excited about this discovery, as it could become a drug target to protect the kidneys with fewer systematic side effects than the therapies currently used.
Mathilda will speak about Novel C-terminal CUBN variants associate with chronic proteinuria and normal renal function in the session Internal organs at 13:00 hrs.
Q1:
12th May 1981, Melbourne, Australia
Q2:
Postdoctoral Research Fellow, University of Melbourne
Q3:
I have always had a keen interest in the genetic basis of disease but I quickly realised that I wanted a career that was more directly connected with patients. Studies in genetic counselling helped me realise my passion for improving patient experiences and outcomes by exploring ethical issues in genetics/genomics.
Q4:
My research has explored genetic health professionals’ experiences with returning results from genomic sequencing to patients. This highlights the aspects that these clinicians are struggling with given the rapid introduction of this testing into clinical care. This knowledge can help us develop better training for clinicians and improve reporting practices.
Danya will speak about Genetic health professionals’ experiences returning results from diagnostic genomic sequencing to patients in the session Ethical, policy and psychosocial aspects in genomics at 13:00 hrs.
12th May 1981, Melbourne, Australia
Q2:
Postdoctoral Research Fellow, University of Melbourne
Q3:
I have always had a keen interest in the genetic basis of disease but I quickly realised that I wanted a career that was more directly connected with patients. Studies in genetic counselling helped me realise my passion for improving patient experiences and outcomes by exploring ethical issues in genetics/genomics.
Q4:
My research has explored genetic health professionals’ experiences with returning results from genomic sequencing to patients. This highlights the aspects that these clinicians are struggling with given the rapid introduction of this testing into clinical care. This knowledge can help us develop better training for clinicians and improve reporting practices.
Danya will speak about Genetic health professionals’ experiences returning results from diagnostic genomic sequencing to patients in the session Ethical, policy and psychosocial aspects in genomics at 13:00 hrs.
Q1:
1984, Zanjan, Iran
Q2:
Postdoctoral Fellow
Q3:
I am fascinated with the potentials of genomic data and how they could revolutionize medical diagnosis and drug development. In my research, I focus on the ethical, legal and social challenges associated with processing genomic data, and investigate the adequacy of the relevant policies and safeguards. Working on the ethical and legal aspects of genetic testing and genomic research provided me with great opportunity to contribute to a very dynamic interdisciplinary field, which is at a crossroad of science and society.
Q4:
In the view of growing importance of data sharing in genomics, it is crucial to ensure the adequacy of the consent and privacy policies of the clinical laboratories when using public data sharing platforms. My research provides a critical overview of the current consent and privacy policies of the data contributors to major variant data sharing platforms.
Mahsa will speak about Variant data sharing by clinical laboratories through public databases: consent, privacy and further contact for research policies in the session Ethical, policy and psychosocial aspects in genomics at 13:00 hrs.
1984, Zanjan, Iran
Q2:
Postdoctoral Fellow
Q3:
I am fascinated with the potentials of genomic data and how they could revolutionize medical diagnosis and drug development. In my research, I focus on the ethical, legal and social challenges associated with processing genomic data, and investigate the adequacy of the relevant policies and safeguards. Working on the ethical and legal aspects of genetic testing and genomic research provided me with great opportunity to contribute to a very dynamic interdisciplinary field, which is at a crossroad of science and society.
Q4:
In the view of growing importance of data sharing in genomics, it is crucial to ensure the adequacy of the consent and privacy policies of the clinical laboratories when using public data sharing platforms. My research provides a critical overview of the current consent and privacy policies of the data contributors to major variant data sharing platforms.
Mahsa will speak about Variant data sharing by clinical laboratories through public databases: consent, privacy and further contact for research policies in the session Ethical, policy and psychosocial aspects in genomics at 13:00 hrs.
These authors will present on Tuesday, June 18
Q1:
March 9th 1986, Marostica (Vicenza, Italy)
Q2:
Postdoctoral Research Fellow in Dr. Christopher A. Walsh Lab at Harvard Medical School Children’s Hospital, Division of Genetics and Genomics, Manton Center for Orphan Disease Research (Boston, MA, USA)
Q3:
I believe that the genome encloses the secrets of all the major processes of life, from the generation of a complex organism to disease insurgence. I am interested in studying human development and related diseases, and I think that genetics offers the best perspectives to approach such topics.
Q4:
The research I am presenting offers novel insights on human genetic mosaicism and embryonic development. We used mosaic DNA variants as markers to perform single cell lineage tracing, and analyzed a variety of organs and tissues to reveal how developmental clones contribute to the formation of the human body.
Sara will speak about Somatic mutation cell lineage analysis reveals progressive clonal determination in human embryo in the session Mosaicisms at 11:00 hrs.
March 9th 1986, Marostica (Vicenza, Italy)
Q2:
Postdoctoral Research Fellow in Dr. Christopher A. Walsh Lab at Harvard Medical School Children’s Hospital, Division of Genetics and Genomics, Manton Center for Orphan Disease Research (Boston, MA, USA)
Q3:
I believe that the genome encloses the secrets of all the major processes of life, from the generation of a complex organism to disease insurgence. I am interested in studying human development and related diseases, and I think that genetics offers the best perspectives to approach such topics.
Q4:
The research I am presenting offers novel insights on human genetic mosaicism and embryonic development. We used mosaic DNA variants as markers to perform single cell lineage tracing, and analyzed a variety of organs and tissues to reveal how developmental clones contribute to the formation of the human body.
Sara will speak about Somatic mutation cell lineage analysis reveals progressive clonal determination in human embryo in the session Mosaicisms at 11:00 hrs.
Q1:
28/09/1988, Firminy (France)
Q2:
Medical geneticist, PhD student
Q3:
As a medical doctor, genetics is a fascinating field to work in, as it deals with cutting-edge science, precision medicine, and major ethical questions. I am convinced that advances in genetics will shape the medicine of tomorrow, and will highly improve patients’ life.
Q4:
Mosaicism is a very challenging field. To unveil the genetic basis of pigmentary mosaicism of the skin, we had to reconsider our methods, and to develop an original and inventive approach. We have encountered encouraging results, and we learned a lot! We hope that these tools may benefit to patients beyond our scope.
Arthur will speak about Genetic basis of mosaic pigmentary disorders of the skin and how to detect them: the M.U.S.T.A.R.D. cohort’s experience in the session Mosaicisms at 11:00 hrs.
28/09/1988, Firminy (France)
Q2:
Medical geneticist, PhD student
Q3:
As a medical doctor, genetics is a fascinating field to work in, as it deals with cutting-edge science, precision medicine, and major ethical questions. I am convinced that advances in genetics will shape the medicine of tomorrow, and will highly improve patients’ life.
Q4:
Mosaicism is a very challenging field. To unveil the genetic basis of pigmentary mosaicism of the skin, we had to reconsider our methods, and to develop an original and inventive approach. We have encountered encouraging results, and we learned a lot! We hope that these tools may benefit to patients beyond our scope.
Arthur will speak about Genetic basis of mosaic pigmentary disorders of the skin and how to detect them: the M.U.S.T.A.R.D. cohort’s experience in the session Mosaicisms at 11:00 hrs.
Q1:
02/11/1986, London, United Kingdom
Q2:
Postdoc at the University of Bristol
Q3:
I wanted a career where I looked forward to going to work each day. Genetic epidemiology fit this perfectly as I find it both immensely interesting and hugely rewarding. The enthusiasm of my various teachers and mentors over the years have also played an important role in why I’ve chosen a career in genetics.
Q4:
My research involves the association between transcriptome-wide gene expression and almost 400 complex traits using data from 48 different human tissues. In my talk I will demonstrate several translatable applications of this work, such as uncovering tissue-dependent regulatory mechanisms in disease, validating therapeutic targets and prioritising causal genes in GWAS. All my results can be explored systematically at http://mrcieu.mrsoftware.org/Tissue_MR_atlas/.
02/11/1986, London, United Kingdom
Q2:
Postdoc at the University of Bristol
Q3:
I wanted a career where I looked forward to going to work each day. Genetic epidemiology fit this perfectly as I find it both immensely interesting and hugely rewarding. The enthusiasm of my various teachers and mentors over the years have also played an important role in why I’ve chosen a career in genetics.
Q4:
My research involves the association between transcriptome-wide gene expression and almost 400 complex traits using data from 48 different human tissues. In my talk I will demonstrate several translatable applications of this work, such as uncovering tissue-dependent regulatory mechanisms in disease, validating therapeutic targets and prioritising causal genes in GWAS. All my results can be explored systematically at http://mrcieu.mrsoftware.org/Tissue_MR_atlas/.
Tom will speak about A transcriptome-wide Mendelian randomization study to uncover tissue-dependent regulatory mechanisms across the human phenome in the session Bioinformatics and multiomics at 11:00 hrs.
Q1:
15.12.1990 Helsinki
Q2:
Doctoral candidate at Institute for Molecular Medicine Finland, FIMM.
Q3:
When I started my studies, I was looking for a minor subject that would best fit with statistics. Vert soon I discovered genetics, which I had always been interested in, and it was a perfect match! Just how perfect it was hit me at the latest when I got involved with genetic research while doing my master’s thesis.
Q4:
My research shows how you don’t always need millions of samples to make new discoveries, as it is commonly though in the field of genetics. If you are using suitable methods for your data, you can make ground-breaking discoveries even with thousands of samples.
15.12.1990 Helsinki
Q2:
Doctoral candidate at Institute for Molecular Medicine Finland, FIMM.
Q3:
When I started my studies, I was looking for a minor subject that would best fit with statistics. Vert soon I discovered genetics, which I had always been interested in, and it was a perfect match! Just how perfect it was hit me at the latest when I got involved with genetic research while doing my master’s thesis.
Q4:
My research shows how you don’t always need millions of samples to make new discoveries, as it is commonly though in the field of genetics. If you are using suitable methods for your data, you can make ground-breaking discoveries even with thousands of samples.
Sanni will speak about Multivariate GWAS of inflammatory markers reveals novel disease associations in the session Bioinformatics and multiomics at 11:00 hrs.
Q1:
May 3 1988, Oss, Noord-Brabant, The Netherlands
Q2:
PhD candidate in human genetics and structural bioinformatics
Q3:
During the writing of my master thesis I encountered how computer science could be used to solve biological questions. I didn’t realize it at that time, but here I fell in love with research.
After obtaining my degree in computer science program I initially started my career as a data scientist for a startup in online marketing optimization. I realized during my time here that I missed conducting research and dealing with biologically relevant questions. Therefore, I decided to look for a PhD position in the field of Bioinformatics.
I found a fantastic position at the Radboudumc in Nijmegen (Netherlands). Here I now work jointly with the department of Human Genetics and the Centre for Molecular and Biomolecular Informatics in order to research the effects of genetic variation on protein structures using large scale genomic datasets. By combining proteomics and genomics I attempt to find new ways to look at genetic information and this has already led to some interesting discoveries.
What intrigues me so much about the field of human genetics is the applicability of computer science to uncover scientific findings that would otherwise be so hard to observe. These findings directly affect the work of clinicians and indirectly the patients, which is a further heartwarming reward.
Q4:
The enormous amount of genetic data that has been accumulated in the last decades contains a wealth of information. One of the challenges in uncovering this information is finding different ways to interpret these data. The research I will be presenting introduces a novel way to accomplish this by making use of protein domains.
Protein domains are vastly present in the human genome and when these domains belong to the same family they have a similar function and structure. If protein domains belong to the same family, even across different genes, then these share a common ancestor and we call these homologues.
We have made use of homologous relationships between protein domains to aggregate variation from large scale population-based and pathogenic datasets. That can subsequently be used to interpret genetic variants of unknown significance.
Laurens will speak about Analysis of genetic variants through aggregation of homologous human protein domains via MetaDome strongly improves diagnostic prediction of missense variants in the session Bioinformatics and multiomics at 11:00 hrs.
May 3 1988, Oss, Noord-Brabant, The Netherlands
Q2:
PhD candidate in human genetics and structural bioinformatics
Q3:
During the writing of my master thesis I encountered how computer science could be used to solve biological questions. I didn’t realize it at that time, but here I fell in love with research.
After obtaining my degree in computer science program I initially started my career as a data scientist for a startup in online marketing optimization. I realized during my time here that I missed conducting research and dealing with biologically relevant questions. Therefore, I decided to look for a PhD position in the field of Bioinformatics.
I found a fantastic position at the Radboudumc in Nijmegen (Netherlands). Here I now work jointly with the department of Human Genetics and the Centre for Molecular and Biomolecular Informatics in order to research the effects of genetic variation on protein structures using large scale genomic datasets. By combining proteomics and genomics I attempt to find new ways to look at genetic information and this has already led to some interesting discoveries.
What intrigues me so much about the field of human genetics is the applicability of computer science to uncover scientific findings that would otherwise be so hard to observe. These findings directly affect the work of clinicians and indirectly the patients, which is a further heartwarming reward.
Q4:
The enormous amount of genetic data that has been accumulated in the last decades contains a wealth of information. One of the challenges in uncovering this information is finding different ways to interpret these data. The research I will be presenting introduces a novel way to accomplish this by making use of protein domains.
Protein domains are vastly present in the human genome and when these domains belong to the same family they have a similar function and structure. If protein domains belong to the same family, even across different genes, then these share a common ancestor and we call these homologues.
We have made use of homologous relationships between protein domains to aggregate variation from large scale population-based and pathogenic datasets. That can subsequently be used to interpret genetic variants of unknown significance.
Laurens will speak about Analysis of genetic variants through aggregation of homologous human protein domains via MetaDome strongly improves diagnostic prediction of missense variants in the session Bioinformatics and multiomics at 11:00 hrs.
Q1:
Zagreb, 26.7.1989.
Q2:
PhD Student in bioinformatics
Q3:
I loved reading books about population genetics as a kiddo. I loved stories about migrations of people, inheritance of traits, etc. Thus, I decided to study molecular biology and further proceed into data analysis of genomics datasets.
Q4:
My research represents a systematic analysis of currently available approaches to associate regulatory regions with genes they regulate and proposes a new approach (reg2gene). Methods differ largely in the enhancer definition, selection of data sources for modelling, validation and benchmarking, and consequently, the final number of predicted enhancer-promoter s differs. I tackle all these problems, and provide strategies for using them in the downstream analysis. This is especially interesting for the analysis of risk associated polymorphisms.
Inga will speak about reg2gene: predicting enhancer-gene associations using ensemble learning approaches in the session Bioinformatics and multiomics at 11 hrs.
Zagreb, 26.7.1989.
Q2:
PhD Student in bioinformatics
Q3:
I loved reading books about population genetics as a kiddo. I loved stories about migrations of people, inheritance of traits, etc. Thus, I decided to study molecular biology and further proceed into data analysis of genomics datasets.
Q4:
My research represents a systematic analysis of currently available approaches to associate regulatory regions with genes they regulate and proposes a new approach (reg2gene). Methods differ largely in the enhancer definition, selection of data sources for modelling, validation and benchmarking, and consequently, the final number of predicted enhancer-promoter s differs. I tackle all these problems, and provide strategies for using them in the downstream analysis. This is especially interesting for the analysis of risk associated polymorphisms.
Inga will speak about reg2gene: predicting enhancer-gene associations using ensemble learning approaches in the session Bioinformatics and multiomics at 11 hrs.
Q1:
October 4, 1993 – Geel, Belgium
Q2:
PhD student at KU Leuven
Q3:
Ever since I’ve started studying bioengineering, I’ve been interested in the field of genetics as it literally is the core of life. The rapidly evolving field creates a dynamic and challenging environment in which I can combine my passion for big data analysis and biology.
Q4:
The face is a biological billboard of our identity and underlying genes. My research aims to link facial morphology to genetic variants, which has potential applications in clinical genetics and forensic sciences.
Hanne will speak about A GWAS on data-driven 3D facial phenotypes selected by matching siblings reveals 310 genetic loci in the session Bioinformatics and multiomics at 11:00 hrs.
October 4, 1993 – Geel, Belgium
Q2:
PhD student at KU Leuven
Q3:
Ever since I’ve started studying bioengineering, I’ve been interested in the field of genetics as it literally is the core of life. The rapidly evolving field creates a dynamic and challenging environment in which I can combine my passion for big data analysis and biology.
Q4:
The face is a biological billboard of our identity and underlying genes. My research aims to link facial morphology to genetic variants, which has potential applications in clinical genetics and forensic sciences.
Hanne will speak about A GWAS on data-driven 3D facial phenotypes selected by matching siblings reveals 310 genetic loci in the session Bioinformatics and multiomics at 11:00 hrs.
Q1:
April 11, 1989 Miaoli City, Taiwan
Q2:
PhD student at Institute for Genome Statistics and Bioinformatics at University of Bonn
Q3:
With the gaining popularity of next-generation sequencing, the call for developing and applying computational model and novel algorithm to analyze genetic disorders has become urgent. Therefore, developing computational approach on bioinformatics problems to save people who suffered from genetic diseases and thus increase the overall well-being is always the strongest motivation for my study.
Q4:
We developed GestaltMatch to identify the second patient with the same phenotype by next-generation phenotyping. Deep convolutional neural network was used to train model on more than 10000 patient’s frontal photos. We further performed clustering analysis to match patients by facial embeddings. It opens the door to extend the coverage of phenotypes and to enable further exploration of the unknown phenotype-genotype associations.
Tzung-Chien will speak about GestaltMatcher: Identifying the second patient of its kind in the phenotype space in the session Bioinformatics and multiomics at 11 hrs.
April 11, 1989 Miaoli City, Taiwan
Q2:
PhD student at Institute for Genome Statistics and Bioinformatics at University of Bonn
Q3:
With the gaining popularity of next-generation sequencing, the call for developing and applying computational model and novel algorithm to analyze genetic disorders has become urgent. Therefore, developing computational approach on bioinformatics problems to save people who suffered from genetic diseases and thus increase the overall well-being is always the strongest motivation for my study.
Q4:
We developed GestaltMatch to identify the second patient with the same phenotype by next-generation phenotyping. Deep convolutional neural network was used to train model on more than 10000 patient’s frontal photos. We further performed clustering analysis to match patients by facial embeddings. It opens the door to extend the coverage of phenotypes and to enable further exploration of the unknown phenotype-genotype associations.
Tzung-Chien will speak about GestaltMatcher: Identifying the second patient of its kind in the phenotype space in the session Bioinformatics and multiomics at 11 hrs.
Q1:
23/07/1990 Paris, France
Q2:
PhD student at the Imagine Institute, Paris
Q3:
As far as I remember I have always been curious and in love with science. Research was therefore an obvious choice for me. And it is when I attended my first genetics class, in 2008, that I knew I wanted to continue in this field. The human genome was published only a few years before and was for me representing a gold mine of data that needed to be explored. And indeed, more than ten years later, we are still at the beginning of the exploration!
Q4:
Mitochondrial diseases are a clinically and genetically heterogeneous group of disease. The molecular diagnosis remains difficult for a lot of patients. Therefore, it is necessary to better describe the physiologic and pathologic functions of mitochondrial proteins. We focus on mutations in MRPS28, encoding the small mitoribosomal protein bS1m, leading to a severe mitochondrial disease in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement. Human mitoribosome has drastically evolved from its bacterial origin. In bacteria, bS1 plays a central role in translation initiation as it is involved in mRNA binding but seems to have no apparent role in ribosomal assembly. In opposite, the function of bS1m in human was poorly studied. Our data suggest that, in contrast to bS1, bS1m is an important structural component of the mitoribosome as mtSSU assembly is compromised in its absence.
Juliette will speak about Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement in the session Mitochondrial disorder at 11:00 hrs.
23/07/1990 Paris, France
Q2:
PhD student at the Imagine Institute, Paris
Q3:
As far as I remember I have always been curious and in love with science. Research was therefore an obvious choice for me. And it is when I attended my first genetics class, in 2008, that I knew I wanted to continue in this field. The human genome was published only a few years before and was for me representing a gold mine of data that needed to be explored. And indeed, more than ten years later, we are still at the beginning of the exploration!
Q4:
Mitochondrial diseases are a clinically and genetically heterogeneous group of disease. The molecular diagnosis remains difficult for a lot of patients. Therefore, it is necessary to better describe the physiologic and pathologic functions of mitochondrial proteins. We focus on mutations in MRPS28, encoding the small mitoribosomal protein bS1m, leading to a severe mitochondrial disease in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement. Human mitoribosome has drastically evolved from its bacterial origin. In bacteria, bS1 plays a central role in translation initiation as it is involved in mRNA binding but seems to have no apparent role in ribosomal assembly. In opposite, the function of bS1m in human was poorly studied. Our data suggest that, in contrast to bS1, bS1m is an important structural component of the mitoribosome as mtSSU assembly is compromised in its absence.
Juliette will speak about Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement in the session Mitochondrial disorder at 11:00 hrs.
Q1:
September 9, 1988 – Hanover, Germany
Q2:
Post Doc in the group of Prof. Dr. Kerstin Kutsche at the Institute of Human Genetics, University Medical Center Hamburg-Eppendorf
Q3:
I chose a scientific career in human genetics because it is an extremely multifaceted and interdisciplinary workspace, including typical genetics as well as biomedical aspects and classical questions in cell biology. Because we are always confronted with new disease phenotypes, projects are manifold and are awaking my curiosity.
Q4:
Whole-exome sequencing identified a homozygous variant in the PISD gene in two patients with a skeletal dysplasia. PISD is required for producing the mitochondria membrane component phosphatidylethanolamine. Our functional studies using patient-derived fibroblasts showed fragmented mitochondrial morphology and increased cellular susceptibility to stress-induced apoptosis. Cellular defects could be rescued by ethanolamine supplementation, providing a possible treatment option for the patients.
Leonie will speak about The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function in the session Mitochondrial disorder at 11:00 hrs.
September 9, 1988 – Hanover, Germany
Q2:
Post Doc in the group of Prof. Dr. Kerstin Kutsche at the Institute of Human Genetics, University Medical Center Hamburg-Eppendorf
Q3:
I chose a scientific career in human genetics because it is an extremely multifaceted and interdisciplinary workspace, including typical genetics as well as biomedical aspects and classical questions in cell biology. Because we are always confronted with new disease phenotypes, projects are manifold and are awaking my curiosity.
Q4:
Whole-exome sequencing identified a homozygous variant in the PISD gene in two patients with a skeletal dysplasia. PISD is required for producing the mitochondria membrane component phosphatidylethanolamine. Our functional studies using patient-derived fibroblasts showed fragmented mitochondrial morphology and increased cellular susceptibility to stress-induced apoptosis. Cellular defects could be rescued by ethanolamine supplementation, providing a possible treatment option for the patients.
Leonie will speak about The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function in the session Mitochondrial disorder at 11:00 hrs.
Q1:
8.4.1982, India
Q2:
Assistant Professor in Medical Genetics
Q3:
As a paediatrician I came across families with multiple children affected with rare genetic diseases. I also got the opportunity to work with a Senior consultant in genetics who motivated me to pursue a career in genetics. I feel genetics is one such speciality which gives you immense intellectual and emotional satisfaction.
Q4:
We tried to describe a new skeletal dysplasia which is a ribosomal biogenesis pathway disorder.
Dhanya Lakshmi will speak about Identification and characterization of NEPRO-related skeletal dysplasia resembling cartilage hair hypoplasia in the session Developmental disorders 2 at 11 hrs.
8.4.1982, India
Q2:
Assistant Professor in Medical Genetics
Q3:
As a paediatrician I came across families with multiple children affected with rare genetic diseases. I also got the opportunity to work with a Senior consultant in genetics who motivated me to pursue a career in genetics. I feel genetics is one such speciality which gives you immense intellectual and emotional satisfaction.
Q4:
We tried to describe a new skeletal dysplasia which is a ribosomal biogenesis pathway disorder.
Dhanya Lakshmi will speak about Identification and characterization of NEPRO-related skeletal dysplasia resembling cartilage hair hypoplasia in the session Developmental disorders 2 at 11 hrs.
Q1:
August; South Africa
Q2:
PhD Candidate
Q3:
I am a psycho-oncology researcher and I started working in the area of cancer genetics because of my interest in working with patients with a BRCA1 or BRCA2 gene mutation. With the advancements in genetic testing, I am interested in helping individuals and families understand how genetic information can assist them with their health outcomes.
Q4:
How do families interact about their genetic risk? Would family therapy skills assist clinical practice?
I will be presenting my research findings about family communication of genetic information with families with a BRCA1 or BRCA2 gene mutation. Communication is occurring across generations, but there are also barriers. I will present six themes: 1) Responsibility to protect, 2) “It’s a woman’s problem”, 3) Family culture influences communication, 4) Adversarial growth and connection, 5) Key events can be relational turning points, and 6) Health professionals can help. The collective family’s experience and perspective towards a gene mutation can influence a young adult’s decision-making about genetic testing. Family therapy techniques in genetics clinical practice can assist with relationship difficulties that act as barriers to disclosure.
August; South Africa
Q2:
PhD Candidate
Q3:
I am a psycho-oncology researcher and I started working in the area of cancer genetics because of my interest in working with patients with a BRCA1 or BRCA2 gene mutation. With the advancements in genetic testing, I am interested in helping individuals and families understand how genetic information can assist them with their health outcomes.
Q4:
How do families interact about their genetic risk? Would family therapy skills assist clinical practice?
I will be presenting my research findings about family communication of genetic information with families with a BRCA1 or BRCA2 gene mutation. Communication is occurring across generations, but there are also barriers. I will present six themes: 1) Responsibility to protect, 2) “It’s a woman’s problem”, 3) Family culture influences communication, 4) Adversarial growth and connection, 5) Key events can be relational turning points, and 6) Health professionals can help. The collective family’s experience and perspective towards a gene mutation can influence a young adult’s decision-making about genetic testing. Family therapy techniques in genetics clinical practice can assist with relationship difficulties that act as barriers to disclosure.
Alison will speak about Communication across generations: disclosure of BRCA cancer risk with young adults in the session Stakeholder perspectives in cancer genetics at 11:00 hrs.
Tatiane will speak about High-Risk Women’s Responses and Understanding of Polygenic Breast Cancer Risk Information in the session Stakeholder perspectives in cancer genetics at 11:00 hrs.
Q2:
Team leader and Postdoctoral Research Fellow at the Behavioural Sciences Unit, Kids Cancer Centre, Sydney Children’s Hospital, and School of Women’s and Children’s Health, UNSW Sydney
Q3:
I have always had a key interest in making a difference to the lives of children with cancer and their parents through research. When a new precision medicine trial for high-risk childhood cancer patients was launched in Australia it was clear to me that I wanted to pursue a career studying the psychosocial outcomes and educational needs of these families. I am interested in families’ understanding, expectations and coping mechanisms when dealing with (genomic) test results.
Q4:
Precision medicine is complex and difficult to understand. Not many studies have assessed families’ and healthcare professionals’ emotional well-being and expectations around precision medicine trials. Families can face uncertainties regarding likely treatment outcomes and the implications of genomic findings. Parents with higher intolerance of uncertainty might be at greater risk of distress and may benefit from targeted psychosocial support.
Janine will speak about Families’ and healthcare professionals’ uncertainties in the era of cancer precision medicine: results from PRISM in the session Stakeholder perspectives in cancer genetics at 11:00 hrs.
Team leader and Postdoctoral Research Fellow at the Behavioural Sciences Unit, Kids Cancer Centre, Sydney Children’s Hospital, and School of Women’s and Children’s Health, UNSW Sydney
Q3:
I have always had a key interest in making a difference to the lives of children with cancer and their parents through research. When a new precision medicine trial for high-risk childhood cancer patients was launched in Australia it was clear to me that I wanted to pursue a career studying the psychosocial outcomes and educational needs of these families. I am interested in families’ understanding, expectations and coping mechanisms when dealing with (genomic) test results.
Q4:
Precision medicine is complex and difficult to understand. Not many studies have assessed families’ and healthcare professionals’ emotional well-being and expectations around precision medicine trials. Families can face uncertainties regarding likely treatment outcomes and the implications of genomic findings. Parents with higher intolerance of uncertainty might be at greater risk of distress and may benefit from targeted psychosocial support.
Janine will speak about Families’ and healthcare professionals’ uncertainties in the era of cancer precision medicine: results from PRISM in the session Stakeholder perspectives in cancer genetics at 11:00 hrs.