The ESHG proposes the ESHG Poster Awards for the best posters presented by Young Investigators at the meeting. The two winners (one in clinical, the other in basic research) will receive prize money of EUR 500, a complementary ESHG online membership for one year as well as a free particpation in next year’s conference.
The five honorable mentions receive a complementary ESHG online membership for one year.
The ESHG Scientific Programme Committee has selected a number of candidates for the ESHG Poster Award based on the score of their submission after peer review. Candidate posters can be identified by a rosette on the board.
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).

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?
Natalia Pervjakova
Natalia PervjakovaTartu, Estonia
Q1: 27.11.1987, Narva, Estonia
Q2: Researcher at Estonia Genome Center, Institute of Genomics, University of Tartu, Estonia
Q3: Since school, I was in love with the topics that are studied in physics and medicine. It was hard to choose my future career, but one day I realised that genetics could combine both fields. Modern genetics is becoming more and more interdisciplinary and linked with programming, medicine, and artificial intelligence.
Q4: We conducted the first trans-ethnic meta-analysis for gestational diabetes. This disease is poorly studied and there is limited information about its genetic component. Our research shows that gestational diabetes has shared genetic background with type 2 diabetes, although this can be ancestry-specific.
Poster P01.33A with the title Trans-ethnic meta-analysis meta-analysis of gestational diabetes reveals shared genetic background with type 2 diabetes can be found in the poster session P01 – Reproductive Genetics/Prenatal Genetics. Presence at the poster: In slot A, on Sunday, June 16, 2019 from 10:15-11:15 hrs in the Poster Area.
Alexandra Filatova
Alexandra FilatovaMoscow, Russian Federation
Q1:
12/01/1990 Moscow
Q2:
researcher in the functional genomics laboratory of Research Centre for Medical genetics
Q3:
Today genetics is one of the most rapidly developing science. At the same time genetics provides a wide field for fundamental research and great promise for the diagnosis and treatment of various diseases. These features makes it most intriguing for the study.
Q4:
We investigated non-coding variants in the PAX gene that lead to congenital aniridia and focused on splice-affecting and 5ʹ-UTR variants. We found that 5ʹ-UTR variants lead to a significant decrease in the translation efficiency. Our further analysis allows us to suggest the mechanism of their pathogenicity through disruption of uORF which possibly exists in PAX6 5ʹ-UTR.

Poster P02.49C with the title PAX6 non-coding sequence variants cause congenital aniridia can be found in the poster session P02 – Sensory disorders (eye, ear, pain). Presence at the poster: In slot C, on Monday, June 17, 2019 from 10:15-11:15 hrs in the Poster Area.

Anna Morgan
Anna MorganTrieste, Italy
Q1:
22 October 1988, Conegliano (TV), Italy
Q2:
Postdoctoral fellow at the University of Trieste.
Q3:
Since my first Genetics course at University, I started realizing how Genetics contribute to many aspects of human life. This intuition prompted me to dedicate my research activity to this field. In particular, I am interested in uncovering the molecular mechanisms leading to genetic diseases and in understanding the link between DNA mutations and human phenotypes.
Q4:
My work focuses on the study of hearing loss (HL). HL is the most common sensory disorder, affecting more than 5% of the world’s population and in approximately half of the cases it has a genetic origin. It is estimated that around 40% of cases are not caused by mutations in known deafness genes, indicating that new genes still need to be discovered. In this work we identified a new HL gene in three independent families affected by autosomal dominant hereditary hearing loss, opening new important perspective in terms of diagnosis, prevention and treatment.

Poster P02.50D with the title Mutations in PLS1, encoding fimbrin, cause autosomal dominant non-syndromic hearing loss (ADNSHL). can be found in the poster session P02 – Sensory disorders (eye, ear, pain). Presence at the poster: In slot D, on Monday, June 17, 2019 from 16:45-17:45 hrs in the Poster Area.

Stijn Van de Sompele
Stijn Van de SompeleGhent, Belgium
Q1:
17/03/1993 in Ghent, Belgium
Q2:
Pre-doctoral researcher at the De Baere Lab in the Center for Medical Genetics in Ghent, Belgium
Q3:
During my Master Cell and Gene Biotechnology and in the context of my Master’s thesis, I came in contact with the De Baere Lab where I got introduced to the world of eye genetics. After this short but intense period of research which had sparked my interest in the genetics of retinal blindness, I wanted to further deepen my knowledge in this field, so I accepted the offer to do a PhD.
Q4:
Inherited retinal blindness is a group of diseases characterized by a broad genetic and phenotypic spectrum. Despite the large number of reported disease genes, in half of the patients no disease-causing mutation can be found. Here, I will present the discovery of a new disease gene for autosomal recessive retinitis pigmentosa, although this gene was previously associated with a different type of retinal blindness with a different inheritance pattern.

Poster P02.56B with the title Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited rod-dominated retinal disease can be found in the poster session P02 – Sensory disorders (eye, ear, pain). Presence at the poster: In slot B, on Sunday, June 16, 2019 from 17:45-18:45 hrs in the Poster Area.

Ronja Hollstein
Ronja HollsteinBonn, Germany
Q1:
September 22, 1987 in Paderborn, Germany
Q2:
I am postdoctoral researcher at the Institute of Human Genetics Bonn, in the group for Craniofacial Genomics of Dr. Kerstin Ludwig
Q3:
I got in touch with children affected by genetic disorders in my childhood, and my parent´s explanation “They were born like this” was not sufficient to me. Learning about DNA and genetics in high school got me intrigued to dive deeper into the topic, because I found it amazing that the exchange of a single basepair could cause a severe disease. Since then I wanted to decipher the mechanisms behind inherited conditions, from base to phenotype. So, here I am.
Q4:
Probably everyone has seen someone with an orofacial cleft before, it is one of the most common birth defects. But even though genetic risk variants have been identified through GWAS, the underlying pathomechanisms are still poorly understood. Our group aims to unravel the molecular pathology of cleft development and the functional study I present on this conference gives exciting insights in the role of microRNA in orofacial clefting.

Poster P04.41A with the title Identification and characterization of microRNA-149, a candidate for orofacial clefting. can be found in the poster session P04 – Skeletal, connective tissue, ectodermal and skin disorders. Presence at the poster: In slot A, on Sunday, June 16, 2019 from 10:15-11:15 hrs in the Poster Area.

Minttu Marttila
Minttu MarttilaHelsinki, Finland
Q1:
24.9.1976 Helsinki, Finland
Q2:
Researcher
Q3:
I was very interested in genetics from the very beginning of my studies.
Q4:
We have tested how polygenic risk scores (PRS) for coronary artery disease (CAD), type 2 diabetes and venous thromboembolism affect the risk of disease within the following ten years in participants from a population-based study FINRISK.
We compared the CAD classification of Cox regression model with traditional risk factors and polygenic additive model with 6,6M variants. From basic model risk class 10-20% PRS reclassified 205 participants to highest >20% risk class.

Poster P05.52D with the title Polygenic risk information for coronary artery disease – P5.fi FinHealth can be found in the poster session P05 – Cardiovascular disorders. Presence at the poster: In slot D, on Monday, June 17, 2019 from 16:45-17:45 hrs in the Poster Area.

Dylan Lawless
Dylan LawlessLausanne, Switzerland
Q1:
15/05/1990
Q2:
PhD candidate
Q3:
As it is the strongest common denominator for the fields that I love, I was thrust into genetics. I enjoy seeing not just immediate applications for medicine but protracted integration into general science. Within the rules of biology, a finite amount of knowledge must exist. Therefore, I hope that our discoveries in genetics can also reveal unknowns in the unimagined.
Q4:
We built upon current best practices in genomics with protein network analysis to catalog rare coding variants and cluster by physical and functional associations. We identified primary immunodeficiencies resulting in extreme susceptibility to common respiratory viruses, due to genetic variants in a common pathway of viral recognition; associations that may be otherwise overlooked.

Poster P07.32D with the title Rare variants in antiviral response genes drive severe viral respiratory infections in children can be found in the poster session P07 – Immunology and hematopoietic system. Presence at the poster: In slot D, on Monday, June 17, 2019 from 16:45-17:45 hrs in the Poster Area.

Alexej Knaus
Alexej KnausBonn, Germany
Q1:
1986-10-24 Kiew / Ukraine
Q2:
Postdoctoral Researcher
Q3:
To have an impact on the quality of life for the youngest individuals in our society.
Q4:
How the combination of molecular genetics, functional studies, and artificial intelligence is utilized to identify novel disease-causing mutations.

Poster P08.24A with the title Mutations in PIGU, impairing the function of the GPI transamidase complex cause severe intellectual disability, epilepsy, and brain anomalies can be found in the poster session P08 – Intellectual Disability. Presence at the poster: In slot A, on Sunday, June 16, 2019 from 10:15-11:15 hrs in the Poster Area.

Reza Ataei
Reza AtaeiTehran, Iran
Q1:
1984 in Langroud – Iran
Q2:
I have just finished M.Sc in genetics
Q3:
I believe that genetics is the philosophy of life.
Q4:
drosophila olfactory behavior test can be very useful in brain and memory research.

Poster P08.35D with the title RNFT2,a novel gene causing intellectual disability; functional evidence in Drosophila melanogaster can be found in the poster session P08 – Intellectual Disability. Presence at the poster: In slot D, on Monday, June 17, 2019 from 16:45-17:45 hrs in the Poster Area.

Diana Le Duc
Diana Le DucLeipzig, Germany
Q1:
04.02.1985 Valenii de Munte, Romania
Q2:
Postdoctoral Reasercher and Resident Doctor at the Human Genetics Institute, University of Leipzig
Q3:
I find it fascinating that the diversity of life is encoded using the same building blocks in the DNA. So during my PhD in the Max Planck Institute for Evolutionary Anthropology I gained insight in the mechanisms of evolution. As a medical doctor I am of course interested to understand how changes in evolutionary conserved genes and regions lead to disease.
Q4:
WDFY3 is an evolutionary conserved gene that encodes the Autophagy linked FYVE protein (ALFY). This protein is involved in the autophagic machinery, which seems to be responsible for proper neuronal connectivity, as well as brain size. Interestingly, depending on which domain of the protein is affected, the result can be micro or macrocephaly associated with intellectual disability and autistic features. The beauty of the study lies in the replication of the effect in different model systems like Drosophila or mouse.

Poster P08.63D with the title Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size can be found in the poster session P08 – Intellectual Disability. Presence at the poster: In slot D, on Monday, June 17, 2019 from 16:45-17:45 hrs in the Poster Area.

Moeen Riaz
Moeen RiazMelbourne, Australia
Q1:
13 January 1987 and Quetta
Q2:
I am working as a genome analyst/postdoctoral research fellow at genomics groups, school of public health and preventive medicine, Monash university, Australia
Q3:
I got interested in genetics during my undergraduate degree and becomes my passion, when i saw a children having sever genetic eye disease in remote area of Pakistan. Sine then my journey to undertake genetic research in human diseases diversified and now i study genetic basis of complex diseases such as dementia and cancer.
Q4:
Exploring genetic resilience to dementia in elderly. The major genetic risk factor for dementia is Ɛ4 allele of Apolipoprotein E (APOE) gene, we sequenced this gene in 13,131 healthy elderly participants in ASPREE study, 90% of homozygotes Ɛ4 individuals have no sign of dementia. A possibility to explore protecting genetic factors.

Poster P09.008C with the title Effect of APOE on cognitive function and dementia in a longitudinal cohort of 13,131 healthy elderly individuals can be found in the poster session P09 – Neurogenetic and psychiatric disorders. Presence at the poster: In slot C, on Monday, June 17, 2019 from 10:15-11:15 hrs in the Poster Area.

Christopher Hübel
Christopher HübelStockholm, Sweden
Q1:
19.07.1987, Lahnstein
Q2:
PhD candidate
Q3:
I have always been fascinated with genetics. This started in medical school ten years ago. At this point, I realised that genetics is the common feature that unites all medical fields, including endocrinology, metabolism, cancer, and even psychiatry. Genome-wide association studies (GWAS) were about to take off and started to identify genomic variation implicated in complex traits. Currently, we have limited understanding of the causes of psychiatric disorders and, therefore, treatment and preventive options are not satisfactory neither for patients nor for healthcare providers. I’m convinced that this must change and that genetics is one piece of the puzzle that must be solved to improve mental health for our and future generations.
Q4:
Our international collaboration found additional evidence that the eating disorder anorexia nervosa has, in addition to its known its psychiatric component, metabolic factors that contribute to either its origin or progression. For instance, we found a positive genetic correlation between high-density lipoprotein cholesterol and anorexia nervosa which mirrors higher cholesterol concentrations seen in acutely-ill, severely underweight patients suffering from anorexia nervosa. If we continue with our efforts and are able to include larger samples in our meta-analysis, we will be able to identify more meaningful genomic associations with anorexia nervosa. This may facilitate the understanding of anorexia nervosa and identify targets for drug development and repurposing.

Poster P09.012C with the title Anorexia nervosa genome-wide association study identifies eight loci and implicates psychiatric and metabolic origins can be found in the poster session P09 – Neurogenetic and psychiatric disorders. Presence at the poster: In slot C, on Monday, June 17, 2019 from 10:15-11:15 hrs in the Poster Area.

Martin Becker
Martin BeckerSolna, Sweden
Q1:
21st March 1985, Berlin
Q2:
PostDoc
Q3:
The rapid advance in studying the human genome fascinates me. When I left high-school, geneticists celebrated the first draft of the human genome. During my undergraduate, scientists moved new genetics technologies to the clinics, resolved epigenetic maps and visualized the genome in 3D. I wanted to be part of this process!
Q4:
We work with iPSCs from patients with neurodevelopmental disorders caused by mutations in the same gene but with variable severity. One patient is the mono-zygotic twin to a less-affected undiagnosed brother. If we understand the mutational effects, maybe we can learn how the environment has acted on them to influence the clinical outcome.

Poster P09.027B with the title Resolving effects of CASK mutations in children with neurodevelopmental disorders can be found in the poster session P09 – Neurogenetic and psychiatric disorders. Presence at the poster: In slot B, on Sunday, June 16, 2019 from 16:45-17:45 hrs in the Poster Area.

Abdulrahman Ali
Abdulrahman AliDubai, United Arab Emirates
Q1:
Date: 27-May-1994
City of birth: Abu Dhabi, UAE
Q2:
Medical (MBBS) student at Mohammed Bin Rashid University of Medicine and Health Sciences
Q3:
Genetics is the backbone of personalized medicine. With the advent of new technologies such as next generation sequencing, we are able to make great strides in medicine and to elucidate complex diseases at a molecular level. Hence, its crucial for future physician to be trained in genetics in order to overcome the ever changing challenges of healthcare and to deliver best personalized therapeutics for the benefit of patients.
Q4:
Autism spectrum disorder (ASD) is well known for its heterogeneous genetic presentation and that can pose challenges in its genetic identification. To address this issue, we tried to compile and integrate the wealth of genetic information available on ASD to ultimately provide a list of candidate ASD genes, in addition to identifying brain critical exons and pinpointing cell types affected by those mutations.

Poster P09.028C with the title Characterizing cellular heterogeneity of de novo mutations in autism spectrum disorders can be found in the poster session P09 – Neurogenetic and psychiatric disorders. Presence at the poster: In slot C, on Monday, June 17, 2019 from 10:15-11:15 hrs in the Poster Area.

Alba Sanchis-Juan
Alba Sanchis-JuanCambridge, United Kingdom
Q1:
Valencia, Spain
Q2:
PhD student
Q3:
I was always interested in science. During my master studies, I had the opportunity to work in genetics, where I became fascinated by the complexity of the human genome and intrigued by the link between genetic variation and disease.
Q4:
Despite the significant progress in unravelling the origins of neurodevelopmental disorders, still more than half of affected individuals remain without a genetic diagnosis. Our research, as a part of the NIHR Bioresource project, uses whole-genome sequencing to identify pathogenic variants in almost 700 individuals with a neurodevelopmental disorder. We performed a comprehensive rare variant analysis and highlight the value of whole-genome sequencing as a single pass investigation. Pathogenic variants were identified in 31% of our patients, and importantly some of them would not have been identified using the more commonly used exome sequence approach.

Poster P09.126A with the title Comprehensive rare variant analysis of individuals with neurodevelopmental disorders by whole-genome sequencing can be found in the poster session P09 – Neurogenetic and psychiatric disorders. Presence at the poster: In slot A, on Sunday, June 16, 2019 from 10:15-11:15 hrs in the Poster Area.

Guillaume Jouret
Guillaume JouretReims, France
Q1:
March 4, 1988
Q2:
Medical Intern, specializing in Medical Genetics and developmental diseases.
Q3:
I chose to specialize in medical genetics because it is the incredibly interesting alliance of clinic and research, allowing both to practice medicine during specialized consultations, and to use bioinformatics and new DNA sequencing technologies.
Q4:
The research we are presenting at the conference is particularly interesting because it highlights an extremely rare genetic pathology, and helps to understand mechanisms of skull growth in these patients, but also in healthy people.

Poster P11.03C with the title Understanding microcephaly/macrocephaly mechanisms in the new 19p13.3 microduplication/microdeletion syndrome can be found in the poster session P11 – Multiple Malformation/anomalies syndromes. Presence at the poster: In slot C, on Monday, June 17, 2019 from 10:15-11:15 hrs in the Poster Area.

Seyed Ali Safizadeh Shabestari
Seyed Ali Safizadeh ShabestariDubai, United Arab Emirates
Q1:
November 8, 1998 – Tehran, Iran
Q2:
Third year Medical student at Mohammed Bin Rashid University of Medicine and Health Sciences in Dubai, UAE.
Q3:
After observing in a molecular genetics lab in Dubai and surrounding myself with people who saw genetics as the future of medicine, I began to see the future for myself. My university has been very supportive of me and they provided me with the opportunity to work under Dr. Mohammed Uddin, who has been the best mentor I could have wished for in my research career. Under his supervision and guidance, I was able to be a part of the team that performed the first whole genome sequencing in the United Arab Emirates. The genome sequence was of an Emirati Boy with Autism Spectrum Disorder performed by nanopore sequencing. And my journey has continued from there. I believe in the potential genetics and in particular genomics has in the near future and I am passionate about being a part of this growth.
Q4:
We analyzed whole genome clinical microarray data from 10,797 neurodevelopmental disorders (NDD) and 3,174 congenital heart disease (CHD) cases from Ontario to analyze large CNVs. We identified significant overlap of pathogenic and variants of unknown significance (VUS) CNVs between NDD and CHD samples. We also conducted pathway enrichment and brain single cell trancriptome analysis to identify cell types for pleiotropic genes that are impacted in both NDD and CHD cases.

Poster P11.23C with the title Genomic overlap between neurodevelopmental disorders and congenital heart defects can be found in the poster session P11 – Multiple Malformation/anomalies syndromes. Presence at the poster: In slot C, on Monday, June 17, 2019 from 10:15-11:15 hrs in the Poster Area.

Daniel Halperin
Daniel HalperinBeer-Sheva, Israel
Q1:
October 22, 1986
Tel Aviv, Israel
Q2:
MD/PhD candidate
Q3:
The exponentially increasing progress of recent years in genetics enabled numerous opportunities to contribute to the advancement of science. Furthermore, as a future physician, I believe that a thorough understanding of the field of genetics is fundamental and indispensable in the imminent era of personalized medicine.
Q4:
Deciphering the basis of a novel Mendelian disease and delineating a novel syndrome with its plausible mechanism is always exciting. I here demonstrate, through human and Drosophila genetic and in-vitro molecular studies, that a severe multiple malformation syndrome is caused by a mutated SEC31A . Similar to the human disease phenotype, knockdown SEC31A flies had defective brains and early lethality. Moreover, by generating CRISPR/Cas9-mediated SEC31A mutant cells, I demonstrated reduced viability through upregulation of ER-stress pathways, in line with SEC31A’s function in the COP-II protein delivery complex.

Poster P11.68D with the title SEC31A mutation affects ER homeostasis, causing neurological syndrome can be found in the poster session P11 – Multiple Malformation/anomalies syndromes. Presence at the poster: In slot D, on Monday, June 17, 2019 from 16:45-17:45 hrs in the Poster Area.

Pauline Schneeberger
Pauline SchneebergerHamburg, Germany
Q1:
September 25, 1993 – Uelzen, Germany
Q2:
PhD student in the group of Prof. Dr. Kerstin Kutsche at the Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Germany
Q3:
I have always been fascinated by how small aberrations in the genetic code can lead to the most severe clinical phenotypes. And although we have learned a lot about the genetic causes of rare human diseases in the past, there is still a lot of work ahead of us. I am proud to be a part of this process and to decode the complexity of genetic diseases.
Q4:
By whole exome sequencing we identified the KCNN3 gene, encoding the small conductance calcium-activated potassium channel 3, as a novel disease gene for Zimmermann-Laband syndrome. Electrophysiological studies of KCNN3 channel-expressing cells demonstrated that disease-associated mutations result in gain-of function of the mutant channels, characterized by increased Ca2+ sensitivity leading to faster and more complete activation of KCNN3 mutant channels.

Poster P13.13A with the title Gain-of-function mutations in KCNN3 encoding the small-conductance Ca2+-activated K+ channel SK3 cause Zimmermann-Laband syndrome can be found in the poster session P13 – Basic mechanisms in molecular and cytogenetics. Presence at the poster: In slot A, on Sunday, June 16, 2019 from 10:15-11:15 hrs in the Poster Area.

Kevin Cassinari
Kevin CassinariRouen, France
Q1:
I was born the 11/11/1989, In Paris (France)
Q2:
I am a young medical doctor specialized in laboratory medicine, more precisely in cytogenomics, in Rouen University Hospital (France). I’m also PHD student at Normandy University (France).
Q3:
Sincerely ? I do not really know … A series of events and meetings…
But now I’m here and I really like what I’m doing!
Q4:
Rare copy number variations (CNV) are a major cause of genetic diseases, their genotyping of is a key step for their interpretation, which requires segregation within the family and the number of these rare CNVs keeps growing due the development of genome-wide analyses. Therefore I think that, in the NGS era, this new universal ddPCR method should be a very useful tool for genomic medicine laboratories, in complement to Whole Exome or Genome Sequencing.

Poster P14.021D with the title A universal simple and cost-efficient digital PCR method for the targeted analysis of copy number variations can be found in the poster session P14 – New diagnostic approaches, technical aspects & quality control. Presence at the poster: In slot D, on Monday, June 17, 2019 from 16:45-17:45 hrs in the Poster Area.

Bethany Wild
Bethany WildLondon, United Kingdom
Poster P14.056C with the title A new diagnostic approach to calling CNVs from low read-depth genome sequencing data can be found in the poster session P14 – New diagnostic approaches, technical aspects & quality control. Presence at the poster: In slot C, on Monday, June 17, 2019 from 10:15-11:15 hrs in the Poster Area.
Tamara Simakova
Tamara SimakovaSt. Petersburg, Russian Federation
Q1:
July 03, 1984 – St. Petersburg, Russia
Q2:
Head of the Medical Genetics Group at Parseq Lab, St. Petersburg, Russia.
Q3:
Medical genetics is a rapidly progressing field and is playing an increasingly important role in the clinical practice and our understanding of most major diseases. I chose R&D in genetics because I would love to contribute to the advancement of disease prevention, diagnostic and effective treatment.
Q4:
In this project I’ve worked on the development of the fast accurate and inexpensive confirmatory NGS method for metabolic disorders. The most interesting task was to validate the wet-lab and bioinformatic parts to achieve the highest accuracy and provide safe and useful test for clinicians and patients. Now we are introducing the assay into clinical practice.

Poster P14.067B with the title Inborn Errors of Metabolism (IEM) – analytical validation of NGS assays for confirmative diagnostics can be found in the poster session P14 – New diagnostic approaches, technical aspects & quality control. Presence at the poster: In slot B, on Sunday, June 16, 2019 from 16:45-17:45 hrs in the Poster Area.

Heidi Marjonen
Heidi MarjonenHelsinki, Finland
Poster P15.39B with the title Genomics as a personalized medicine approach in disease risk prediction – P5.fi FinHealth can be found in the poster session P15 – Personalized/Predictive Medicine and Pharmacogenomics. Presence at the poster: In slot B, on Sunday, June 16, 2019 from 16:45-17:45 hrs in the Poster Area.
Brunilda Balliu
Brunilda BalliuLos Angeles, United States
Q1:
September 30th 1987 in Vlore, Albania
Q2:
Computational Medicine Fellow – Department of Biomathematics – UCLA
Q3:
My undergraduate training was in statistics at the Athens University of Economics and Business, which has a very theoretical focus in its undergraduate program. From there, I was given the opportunity to join Jeanine Houwing’s statistical genetics group at the University of Leiden. At the time I had barely heard of genetics and was more interested in the statistical nature of the position. Throughout the course of my PhD research, I attended several genetics conferences and became quickly fascinated both with the area as well as its promise for human health.
Q4:
Human aging is a biological process that has profound impacts on all of us; it is a major risk factor for most diseases and is increasingly important as worldwide populations grow older. Because the rate of aging varies among individuals, humans become increasingly different from each other with age. Thus, chronological age fails to provide an accurate indicator of the aging process. Longitudinal studies offer a better understanding of the aging process by studying the same individuals throughout their lifespan, collecting serial assessments rather than by comparing individuals of different ages from different environments. In the work that I will be presenting at this conference, we profiled the transcriptome of 65 healthy participants from the PIVUS study at both age 70 and 80 to quantify longitudinal changes in gene expression and alternative splicing and their genetic regulation as a function of aging late in life. We observed that individuals were more similar to their own gene expression profiles later in life than profiles of other individuals their own age. This indicates that a larger proportion of gene expression variance is explained by shared genetics and environment than by the advanced aging process. Further, we showed that a small proportion of tested genes show a reduction in genetic regulation in older age, with impacted genes enriched in DNA repair pathways. This is the first study of such long-term, longitudinal changes in humans during this critical period of the aging process characterized by high morbidity and mortality.

Poster P16.02B with the title Genetic dysregulation of gene expression and splicing during a ten-year period of human aging can be found in the poster session P16 – Omics/Bioinformatics. Presence at the poster: In slot B, on Sunday, June 16, 2019 from 16:45-17:45 hrs in the Poster Area.

Christian Mertes
Christian MertesGarching, Germany
Q1:
12.12.1987, Filderstadt, Germany
Q2:
PhD Student in the Gagneur lab at the Technical University of Munich
Q3:
Since High-school I’m fascinated by the DNA and how single variant can lead to dramatic changes in the phenotype. During my study I started working on rare diseases and got hooked by trying to decipher the genetic cause of every single patient. This is an amazing field not only because you can help patients and their family by finding the genetic cause but also because you discover fundamental biological mechanisms.
Q4:
RNA sequencing emerges as a complementary technology to DNA sequencing to pinpoint the genetic cause of rare diseases. Finding aberrant events in gene expression or splicing is a crucial step in this methodology. Here, we present a generic approach to detect outliers by using denoising autoencoders to automatically control for confounders. Our results indicate that employing denoising autoencoders will boost the rate of identifying causes of rare diseases in omics data.

Poster P16.57A with the title When the outlier is the signal: Denoising autoencoders to pinpoint causes of rare diseases from RNA-seq data can be found in the poster session P16 – Omics/Bioinformatics. Presence at the poster: In slot A, on Sunday, June 16, 2019 from 10:15-11:15 hrs in the Poster Area.

Verena Heinrich
Verena HeinrichBerlin, Germany
Q1:
11.11.1985 in Bad Saarow, Germany
Q2:
I am currently working as a Bioinformatics Postdoc in the Transcriptional Regulation Group at the Max Planck institute for Molecular Genetics in Berlin, Germany.
Q3:
When I was young I was fascinated by two contrasting topics: the logical world of math and the complex interplay of genetic variation and heredity. I studied biomathematics and later did my PhD in bioinformatics because I always wanted to apply my mathematical knowledge to dissect the secrets of genetics.
Q4:
My research is contributing to the understanding of epigenetic changes to the genome, which affect gene activity and cause phenotypic diversity. Here I present a bioinformatics approach that predicts candidate enhancer regions together with their putative target genes that dynamically
change between different conditions, as for example between disease states.

Poster P17.14C with the title CRUP: A comprehensive framework to predict condition-specific regulatory units can be found in the poster session P17 – Epigenetics and Gene Regulation. Presence at the poster: In slot C, on Monday, June 17, 2019 from 10:15-11:15 hrs in the Poster Area.

Simon Fishilevich
Simon FishilevichRehovot, Israel
Q1:
November 3, 1982, Chernivtsi, Ukraine
Q2:
Data scientist, GeneCards project, at the Lancet lab, Weizmann Institute of Science, Rehovot, Israel
Q3:
Genetics has always fascinated me, and I hoped that my career would involve investigation of the human genome. I wished to be a part of the great scientific effort to better understand our genomes and decipher the complex realm of genotype-phenotype relationships. I feel lucky to be able to contribute to the technological, scientific, and clinical advancements of human genetics during this exciting ongoing whole genome sequencing revolution.
Q4:
I am a member of the GeneCards Suite team, developing new databases and tools used by genetic scientists and clinicians to analyze whole genome sequences. At the upcoming ESHG2019 conference, I will highlight our approach for interpretation of non-coding variants. I will present GeneHancer, a new database of regulatory elements (enhancers and promoters), and its application, within our NGS analysis tools VarElect and TGex, to deciphering non-coding variants. I find this project particularly interesting since it allows to associate mutations previously thought to be in the genome’s “dark matter” with patient phenotypes.

Poster P17.40A with the title Disease interpretation of regulatory variants with GeneHancer can be found in the poster session P17 – Epigenetics and Gene Regulation. Presence at the poster: In slot A, on Sunday, June 16, 2019 from 10:15-11:15 hrs in the Poster Area.

Philip Jansen
Philip JansenAmsterdam, Netherlands
Q1;
10th of May 1989, Utrecht (the Netherlands)
Q2:
Resident Clinical Genetics (VU Medical Center Amsterdam)
PhD student Complex Trait Genetics (VU University Amsterdam)
Q3:
We as the current generation of scientists and clinicians have the privilage of being able to explore which genes explain differences in who we are, in how we experience life and whether we wil suffer from disease. When fully understood, genetics is the final frontier that holds the greatest promise in improving the health and lives of millions, in the current and the many future generations to come.
Q4:
We found a large set of genes that explain why larger brains tend to be associated to higher intelligence. By using GWAS results from both brain volume and intelligence, we were able to take a closer look at the genetic cross-section between characteristics that are long known to be genetically correlated. These genes point towards interesting cellular mechanisms in the brain involved in cellular processes such as mitosis and cell division. Moreover, our study shows how larger GWAS studies are rapidly changing what we know about about both the genome and the brain, and the complex interplay between these two.

Poster P18.29A with the title Cross-trait analysis of brain volume and intelligence identifies shared genomic loci and genes can be found in the poster session P18 – Genetic epidemiology/Population genetics/Statistical methodology and evolutionary genetics. Presence at the poster: In slot A, on Sunday, June 16, 2019 from 10:15-11:15 hrs in the Poster Area.

Adriaan van der Graaf
Adriaan van der GraafGroningen, Netherlands
Q1:
21st of January in the city of Groningen
Q2:
PhD candidate at the University of Groningen, University Medical Center Groningen.
Q3:
I chose to pursue a molecular biology degree because I was intrigued by the complexity behind biological mechanisms. The common denominator behind this complexity is genetics. Without genetic information, organisms cannot live, grow or reproduce.
Thus, genetics is at the basis of all these complex biological mechanizations and studying genetics is really studying biological mechanisms from the ground up.
This is why I chose genetics as a field of study. It makes it possible to understand biological mechanisms by looking at someone’s DNA. While doing so, we learn about all the mechanisms that have created human life.
Q4:
Deriving causal relationships usually requires that samples or subjects are perturbed in a systematic way. Usually these experiments are expensive, unfeasible or downright unethical to perform. Fortunately it is possible to derive causality from unperturbed observational data, using a method called Mendelian randomization (MR). However MR is only possible under a limited set of circumstances. We have developed a method that broadens these necessary assumptions. We show that we are able to robustly identify causal relationships between gene expression and complex traits, providing mechanistic insight into how complex traits are caused. Improving understanding of the mechanisms underlying phenotypic traits is key for proper drug targets identification and planning of experimental follow up.

Poster P18.42B with the title MR-link: Identifying known and novel causality from gene expression to complex traits, while accounting for pleiotropy and linkage can be found in the poster session P18 – Genetic epidemiology/Population genetics/Statistical methodology and evolutionary genetics. Presence at the poster: In slot B, on Sunday, June 16, 2019 from 16:45-17:45 hrs in the Poster Area.

Bettina Zimmermann
Bettina ZimmermannBasel, Switzerland
Q1:
23.05.1988, Freiburg i. Br. (Germany)
Q2:
PhD candidate at the Institute for Biomedical Ethics, University of Basel
Q3:
Because it opens scientific as well as societal challenges on many different levels, and is a growing field with much potential.
Q4:
It contributes to the question how ethical challenges of genetic testing are portrayed to the public. With direct-to-consumer genetic testing on the rise such research is of increasing relevance in order to understand the potential benefits and pitfalls, and to empower test users to deal with direct-to-consumer genetic testing reasonably.

Poster P21.07B with the title Most issues covered but not in their full complexity: a newspaper content analysis of ethical issues in predictive genetic testing can be found in the poster session P21 – Lay beliefs and public understanding of genetics / Access to genetic services. Presence at the poster: In slot B, on Sunday, June 16, 2019 from 16:45-17:45 hrs in the Poster Area.

Jane Tiller
Jane TillerMelbourne, Australia
Q2:
Ethical, Legal and Social Adviser in Public Health Genomics, Monash University, Melbourne, Australia
Q3:
I have always loved science and genetics – really getting under the hood and understanding how things work at the level of our DNA. I studied Science/Law as a double degree at undergrad level and then worked as a corporate litigator for a number of years. I loved being a litigator, but I really missed science – the cases that lit me up the most were those that involved some aspect of science or genetics. I decided on a big career change and went back to genetics, gaining my Masters in Genetic Counselling. This has led to the wonderful career I am now pursuing!
Q4:
Genetic discrimination in life insurance is a big problem in countries like Australia who haven’t yet done anything to protect consumers. It leads to individuals choosing not to have potentially life-saving testing, and it also deters people from involvement in genomic research. At a time where genomic research is critical, and governments are investing significantly in genomic medicine, public trust and confidence is critical. But it is hard to gather evidence around individuals’ experiences of genetic discrimination. Here we demonstrate our journey towards achieving a moratorium (ban) on the use of genetic test results in life insurance in Australia.

Poster P23.02B with the title Achieving a moratorium on the use of genetic test results in Australian life insurance: a case study can be found in the poster session P23 – Legal implications of advances in genetics. Presence at the poster: In slot B, on Sunday, June 16, 2019 from 16:45-17:45 hrs in the Poster Area.