{"id":887,"date":"2017-03-20T14:13:47","date_gmt":"2017-03-20T13:13:47","guid":{"rendered":"https:\/\/2017.eshg.org\/?page_id=887"},"modified":"2019-06-07T13:33:24","modified_gmt":"2019-06-07T12:33:24","slug":"speaker-profiles","status":"publish","type":"page","link":"https:\/\/2019.eshg.org\/index.php\/speakers\/speaker-profiles\/","title":{"rendered":"Speaker Profiles"},"content":{"rendered":"

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Meet our confirmed\u00a0conference speakers for this year’s conference and find out more about their background and work.<\/h2>\n<\/div>
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\"Andrew<\/div><\/div>
Andrew Adey<\/span>Assistant Professor<\/span><\/div><\/div>
Andrew Adey is an assistant professor of Molecular & Medical Genetics at the department of Molecular and Medical Genetics at the Oregon Health and Science University in Portland, United States.
\nPrincipal interest(s): The development and deployment of single-cell genomics technologies to understand human development and disease progression
\nArea(s) of research: Epigenetics, Genomics, Single-cell<\/p>\n

Andrew Adey will be giving a talk about \u201cAdvances in epigenomic and multi-omic analysis of single cells by combinatorial indexing\u201d on Saturday, June 15.<\/p>\n<\/div>

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\"Corinne<\/div><\/div>
Corinne Antignac<\/span>Professor<\/span><\/div><\/div>
Corinne Antignac is a Professor of Genetics at the University Paris Descartes, in Paris, France. She is also the head of the INSERM Laboratory of Hereditary Kidney Diseases at the Imagine Institute, an interdisciplinary research center on rare genetic diseases in the Necker Enfants-Malades University Hospital campus.
\nArea(s) of research: Identification and characterization of genes responsible for monogenic renal disorders.<\/p>\n

Corinne Antignac will be giving a talk about \u201cNew insights in the genetics of hereditary nephrotic syndromes\u201d on Sunday, June 16.<\/div><\/div><\/div>

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\"Christophe<\/div><\/div>
Christophe Arnoult <\/span>Research Director, PhD<\/span><\/div><\/div>
Christophe Arnoult is a research director at CNRS and a team leader at the Institute for Advanced Biosciences at the Grenoble Alpes University in France.
\nPrincipal interest(s): His scientific interest focuses on gametes physiology. He is studying in particular the acrosome reaction, an exocytotic, calcium-dependent event essential for fertilization and sperm flagellum. He is also interested in mRNA control during oogenesis.
\nArea(s) of research: Currently, he focuses his research on human infertility due to genetic defects. He has characterized several genes, such as DPY19L2 and SPINK2, involved in male infertility due to defective acrosome biogenesis and several genes involved in MMAF syndrome (Multiple Morphological Anomalies of the Flagellum), such as DNAH1, CFAP43, CFAP44, using exomic sequencing and NGS. He recently characterized PATL2 as a new gene involved in oocyte maturation defect in females.<\/p>\n

Christophe Arnoult will be giving a talk about \u201cNovel discoveries of genes implicated in male and female infertility\u201d on Tuesday, June 18.<\/div>

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\"Jehannine<\/div><\/div>
Jehannine Austin<\/span>Professor and Executive Director<\/span><\/div><\/div>
Jehannine Austin is a professor of psychiatry and medical genetics, executive director of the British Columbia Mental Health and Addictions Research institute.
\nPrincipal interest(s): genetic counseling, psychiatric genetics
\nArea(s) of research: psychiatric genetic counseling, genetic counseling outcomes research and stigma<\/p>\n

Jehannine Austin will be giving a talk about \u201cUpdates in clinical applications of psychiatric genetics\u201d on Sunday, June 16.<\/div>

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\"Alexis<\/div><\/div>
Alexis Battle<\/span>Professor<\/span><\/div><\/div>
Alexis Battle will be giving a talk about \u201cUsing GTEx to understand complex diseases\u201d on Saturday, June 15.<\/div><\/div><\/div>
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\"Stephanie<\/div><\/div>
Stephanie Baulac<\/span>Research Director (Inserm) & Group leader (ICM) <\/span><\/div><\/div>
Stephanie Baulac leads the research group “Genetics and Physiopathology of Epilepsies\u201d at the Institut du Cerveau et de la Moelle – ICM in Paris, France. She is also a research director at INSERM \u2013 French National Institute of Health and Medical Research in Paris, France.
\nPrincipal interest(s): Molecular and physiopathological basis of neurodevelopmental epilepsies
\nArea(s) of research: Somatic mutations in malformations of the cortical development, NGS in familial focal epilepsies, iPSCs, and animal models<\/p>\n

Stephanie Baulac will be giving a talk about \u201cSomatic mutations of the mTOR pathway in focal epilepsies\u201d on Monday, June 17.<\/div>

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\"Fran\u00e7oise<\/div><\/div>
Fran\u00e7oise Baylis<\/span>Research Professor<\/span><\/div><\/div>
Fran\u00e7oise Baylis is University Research Professor at Dalhousie University, Halifax, Canada. She is a member of the Order of Canada and the Order of Nova Scotia, as well as a Fellow of the Royal Society of Canada and a Fellow of the Canadian Academy of Health Sciences.
\nPrincipal interest(s): Ethical issues concerning women\u2019s reproductive health, assisted human reproduction, embryo research, and research involving pregnant women
\nArea(s) of research: Baylis\u2019 area of expertise is ethics and her work is at the intersection of policy and practice. Her current research focuses ethics and human genome editing.<\/p>\n

Fran\u00e7oise Baylis will be giving a talk about \u201cCRISPR Babies: Our Cells\/Ourselves\u201d on Monday, June 17.<\/div>

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\"Christian<\/div><\/div>
Christian Benner<\/span>Professor<\/span><\/div><\/div>
Christian Benner will be giving a talk about \u201cFrom association to causal variant(s): statistical methods for finemapping\u201d on Monday, June 17.<\/div><\/div><\/div>
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\"Carsten<\/div><\/div>
Carsten Bergmann<\/span>Professor<\/span><\/div><\/div>
Carsten Bergmann will be giving a talk about \u201cUpdate on polycystic kidney disease\u201d on Sunday, June 16.<\/div><\/div><\/div>
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\"Christoph<\/div><\/div>
Christoph Bock<\/span>Principal Investigator <\/span><\/div><\/div>
Christoph Bock is a principal investigator at the CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences. He is also a visiting professor at the Medical University of Vienna, scientific coordinator of the Biomedical Sequencing Facility at CeMM, and adjunct group leader for bioinformatics at the Max Planck Institute for Informatics.
\nPrincipal interest(s): Medical Epigenomics, Bioinformatics & ML\/AI, Single-cell Sequencing
\nCancer Immunology and CRISPR Technology
\nArea(s) of research: His research group combines high-throughput experimental biology (genome sequencing, epigenetics, CRISPR screening, systems & synthetic biology) with computational research (bioinformatics, machine learning, artificial intelligence), in order to dissect immune regulation and to improve diagnosis and therapy for cancer and immune disease.<\/p>\n

Christoph Bock will be giving a talk about \u201cPooled CRISPR screening with single-cell transcriptome readout\u201d on Sunday, June 16.<\/div>

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\"Kym<\/div><\/div>
Kym Boycott<\/span>Professor, Senior Scientist<\/span><\/div><\/div>
Kym Boycott is a Professor of Pediatrics at the University of Ottawa in Canada, where she is a Clinical Geneticist at the Children\u2019s Hospital of Eastern Ontario (CHEO) and a Senior Scientist at the CHEO Research Institute.
\nPrincipal interest(s): Integrating genomic and other \u2013omic technologies to improve our understanding of rare disease, with a particular focus on solving the unsolved and most difficult rare diseases.
\nArea(s) of research: rare diseases, genomics, other ‘omics, gene discovery, data sharing, health services, model organisms.<\/p>\n

Kym Boycott will be giving a talk about \u201cChallenges and solutions to advance collaboration in rare disease research, diagnostics and therapy\u201d on Tuesday, June 18.<\/div>

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\"Kathleen<\/div><\/div>
Kathleen H. Burns<\/span>Professor of Pathology and Oncology <\/span><\/div><\/div>
Kathleen H. Burns is a professor of Pathology and Oncology at the Johns Hopkins University School of Medicine in Baltimore, United States.
\nPrincipal interest(s): Transposable elements in human disease
\nArea(s) of research: Interspersed repeat expression analysis, mobile element insertion site mapping, structural variation, genetic disease, cancer genetics, cancer biology<\/p>\n

Kathleen Burns will be giving a talk about \u201cInsertion variants at disease risk loci\u201d on Sunday, June 16.<\/div>

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\"Guillaume<\/div><\/div>
Guillaume Canaud<\/span>Professor<\/span><\/div><\/div>
Guillaume Canaud is a professor at the H\u00f4pital Necker Enfants Malades in Paris and at the Universit\u00e9 Paris Descartes, France.
\nPrincipal interest(s): PIK3CA\/AKT\/mTOR pathway and rare diseases<\/p>\n

Guillaume Canaud will be giving a talk about \u201cTargeted therapy in patients with PIK3CA-related overgrowth syndrome\u201d on Saturday, June 15.<\/div>

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\"Mark<\/div><\/div>
Mark JP Chaisson<\/span>Assistant Professor<\/span><\/div><\/div>
Mark Chaisson is Assistant Professor of Quantitative Biology and Bioinformatics at the University of Southern California, United States.
\nPrincipal interest(s): The development of methods to discover and genotype human variation using novel sequencing data.
\nArea(s) of research: Computational Biology, Bioinformatics, Algorithm Development, Structural Variation.<\/p>\n

Mark Chaisson will be giving a talk about \u201cResolving human genetic variation with long-read single-molecule sequencing\u201d on Saturday, June 15.<\/div>

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\"Rob<\/div><\/div>
Rob Collin<\/span>Associate Professor <\/span><\/div><\/div>
Rob Collin is an Associate Professor at the Radboud Unviersity Medical Center, Nijmegen, The Netherlands.
\nPrincipal interest(s): Molecular therapy; gene augmentation; splicing modulation
\nArea(s) of research: Development of Molecular Therapies for Inherited Retinal Diseases<\/p>\n

Rob Collin will be giving a talk about \u201cRestoring splicing defects by antisense oligonucleotide therapy\u201d on Sunday, June 16.<\/div>

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\"Justin<\/div><\/div>
Justin Cotney<\/span>Assistant Professor <\/span><\/div><\/div>
Justin Cotney is an assistant professor of Genetics and Developmental Biology at the department of Genetics & Genome Sciences at the UCONN Health Medical Center in Connecticut, United States.
\nPrincipal interest(s): Gene regulation during human organogenesis. Non-coding variation and human disease. Evolution of gene regulation and species specific phenotypes.
\nArea(s) of research: Epigenomics, transcriptomics, and chromatin architecture in mammalian development.<\/p>\n

Justin Cotney will be giving a talk about \u201cAdvances in epigenomic and multi-omic analysis of single cells by combinatorial indexing\u201d on Saturday, June 15. is an assistant professor of Molecular & Medical Genetics at the department of Molecular and Medical Genetics at the Oregon Health and Science University in Portland, United States.
\nPrincipal interest(s): The development and deployment of single-cell genomics technologies to understand human development and disease progression
\nArea(s) of research: Epigenetics, Genomics, Single-cell<\/p>\n

Justin Cotney will be giving a talk on Tuesday, June 18.<\/div><\/div><\/div>

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\"David<\/div><\/div>
David Crepaz-Keay<\/span>PhD<\/span><\/div><\/div>
David Crepaz-Keay is the Head of Empowerment and Social Inclusion at the Mental Health Foundationin in London, United Kingdom. She is also a research director at INSERM \u2013 French National Institute of Health and Medical Research in Paris, France.
\nPrincipal interest(s): Dr Crepaz-Keay has written and spoken widely on mental health service user, carer and broader public engagement. A former psychiatric patient, he has maintained a strong focus on challenging discrimination. More recently Dr Crepaz-Keay has specialised in public mental health and mental health literacy as key tools for improving lay engagement in complicated fields. Driven by understanding and developing ethics and values in psychiatry, he has engaged in psychiatric genetics and is a member of the International Society of Psychiatric Genetics Ethics Committee.
\nArea(s) of research: Self-management and peer support, patient experience, big data, ethics and values, public mental health, mental health literacy.<\/p>\n

David Crepaz-Keay will be giving a talk about \u201cCurrent understanding of psychiatric genetics research and services amongst mental health service users and their families\u201d on Sunday, June 16.<\/div>

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\"George<\/div><\/div>
George Davey-Smith<\/span>Director of the MRC Integrative Epidemiology Unit (IEU), Professor in Clinical Epidemiology <\/span><\/div><\/div>
Professor George Davey Smith is a clinical epidemiologist and the director of the MRC Integrative Epidemiology Unit (IEU) at the Bristol Medical School, University of Bristol.
\nArea(s) of research: His research has pioneered understanding of the causes and alleviation of health inequalities; lifecourse epidemiology; systematic reviewing of epidemiological evidence; and the study of population health contributions of the new genetics.
\nPrincipal interest(s): He is particularly interested in developing and applying Mendelian randomization approaches, interrogating the causal role of behavioral factors (such as alcohol consumption) and intermediate phenotypes on different health outcomes, such as cardiovascular diseases and type 2 diabetes. He is currently Scientific Director of the Avon Longitudinal Study of Parents and Children.<\/p>\n

George Davey-Smith will be giving a talk about \u201cGenetic instruments in mendelian randomization studies\u201d on Monday, June 17.<\/div>

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\"Wouter<\/div><\/div>
Wouter De Laat<\/span>Professor<\/span><\/div><\/div>
Wouter De Laat is an professor of Biomedical Genomics at the Hubrecht Institute-KNAW, the Oncode Institute, the UMC Utrecht and the Founder Cergentis in Utrecht, the Netherlands.
\nPrincipal interest(s): Long-range gene regulation and 3D Genome
\nMolecular Diagnostics, Non-Invasive Prenatal Diagnosis, Structural Variation in cancer, chromosome conformation capture methods
\nArea(s) of research: Basic science: Transcription, Chromatin, Epigenetics, 3D Genome
\nApplied science: NIPD, chromosome rearrangement detection in cancer<\/p>\n

Wouter De Laat will be giving a talk about \u201cRegulation of disease-associated gene expression in the 3D genome\u201d on Monday, June 17.<\/div>

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\"Laura<\/div><\/div>
Laura De Rosa<\/span>PhD, MSc, Head of Gene Therapy Unit<\/span><\/div><\/div>
Laura De Rosa is head of the Gene Therapy Unit at the Holostem Terapie Avanzate in Modena, Italy.
\nArea(s) of research: She focused her research activities on epidermal stem cells and their use in translational medicine. Laura is directly involved in two phases I\/II clinical trials for dystrophic and junctional Epidermolysis Bullosa and her R&D activities in Holostem Terapie Avanzate are dedicated at enhancing and developing ex-vivo epithelial stem cell gene therapy for genetic skin diseases.<\/p>\n

Laura De Rosa will be giving a talk about \u201cRegeneration of the entire human epidermis using transgenic stem cells\u201d on Tuesday, June 18.<\/div><\/div><\/div>

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\"Joshua<\/div><\/div>
Joshua Charles Denny<\/span>MD, MS, Professor, Director, VP<\/span><\/div><\/div>
Joshua Charles Denny is a professor of Biomedical Informatics and Medicine at the Vanderbilt University, as well as a director at the Center for Precision Medicine and VP for Personalized Medicine at the Vanderbilt University in Nashville, United States.
\nPrincipal interest(s): creation of methods and large resources to use electronic health records (EHRs) and other large data sets to better understand the genomic basis of disease and drug response
\nArea(s) of research: precision medicine, biomedical informatics, genome and phenome analyses, pharmacogenomics, and secondary use of electronic health records (EHRs)<\/p>\n

Joshua Charles Denny will be giving a talk about \u201cThe NIH All of us program: Building a national research program of 1 million U.S. participants to advance precision medicine” on Tuesday, June 18.<\/div>

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\"Michelle<\/div><\/div>
Michelle Digman<\/span>Assistant Professor <\/span><\/div><\/div>
Michelle Digman is an assistant professor at the University of California Irvine, United States.
\nPrincipal interest(s): Non-invasive in vivo optical imaging technologies to measure metabolism
\nArea(s) of research: The phasor approach to Fluorescence Lifetime Imaging Microscopy (FLIM), Huntington disease, confocal microscopy and correlation spectroscopy<\/p>\n

Michelle Digman will be giving a talk about \u201cIn vivo optical imaging and insights into human disease\u201d on Saturday, June 15.<\/div>

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\"Delphine<\/div><\/div>
Delphine Douillet<\/span>Senior Postdoctoral Fellow<\/span><\/div><\/div>
Delphine Douillet is a Post-Doctoral Fellow in Ali Shilatifard laboratory, Northwestern University, United Stated.
\nPrincipal interest(s): Epigenetics\/Epigenomics
\nArea(s) of research: The regulation of gene transcription by RNA polymerase II is critical for development and differentiation, and its misregulation contributes to the pathogenesis of many cancers, including leukemia. The overall goal of our laboratory is to define the molecular mechanisms underlying leukemogenesis and to identify potential targets for therapy through detailed studies of proteins and protein complexes that regulate chromatin modifications, transcription initiation, and transcription elongation.<\/p>\n

Delphine Albrecht will be giving a talk about \u201cEnhancer Logic and Mechanics in Development and Disease\u201d on Monday, June 17.<\/div><\/div><\/div>

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\"Joseph<\/div><\/div>
Joseph R Ecker<\/span>Professor <\/span><\/div><\/div>
Joseph Ecker is Investigator at the Howard Hughes Medical Institute, & Professor at The Salk Institute for Biological Studies in San Diego, United States.
\nPrincipal interest(s): Epigenetics\/Epigenomics
\nArea(s) of research: Our group uses advanced technologies in single cell genomics and neuronal tracing to identify both the molecular signatures of individual neuronal cell types in the mammalian brain and their synaptic partners. We use a variety of multi-omic assays including DNA methylation, RNA-seq, chromatin accessibility and 3D structure in single neurons across the brain. These detailed cell atlases reveal novel cellular taxonomy in the brain and elucidate spatial diversification in fine cell subtypes allowing the identification of cell type-specific DNA regulatory elements. From this information, we can infer transcriptional regulatory networks underlying cell diversification. To link these epigenomically defined cell types to the mouse connectome, AAV2retro has been used to label, isolate, and generate single nuclei methylome data from individual projection neurons. Our analyses show that the laminar location, cortical region, and projection targets all contribute to the unique epigenetic signatures of individual neurons.<\/p>\n

Joseph Ecker will be giving a talk about \u201cSingle Cell Epigenomic Analysis of the Anatomy and Neuronal Circuitry of the Brain\u201d on Tuesday, June 18.<\/div>

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\"Rosalind<\/div><\/div>
Rosalind Eeles<\/span>Professor<\/span><\/div><\/div>
Rosalind Eeles will be giving a talk about \u201cPolygenic risk scores in prostate cancer\u201d on Sunday, June 16.<\/div><\/div><\/div>
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\"Gerard<\/div><\/div>
Gerard Evan<\/span>Professor<\/span><\/div><\/div>
Gerard Evan will be giving a talk about \u201cMyc in Cancer: targeting an engine, not a driver\u201d on Sunday, June 16.<\/div><\/div><\/div>
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\"Geoffrey<\/div><\/div>
Geoffrey J. Faulkner<\/span>Professor<\/span><\/div><\/div>
Geoffrey Faulkner is a professor at the Mater Research Institute at the University of Queensland, Australia.
\nPrincipal interest(s): Retrotransposons, somatic genome mosaicism, single-cell genomics
\nArea(s) of research: Neuroscience, neurodegeneration, genetic disease<\/p>\n

Geoffrey Faulkner will be giving a talk about \u201cL1 retrotransposition in germline, early embryos and cancer development\u201d on Sunday, June 16.<\/div>

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\"Giuliana<\/div><\/div>
Giuliana Ferrari<\/span>Professor<\/span><\/div><\/div>
Giuliana Ferrari is a Professor of Molecular Biology, Head of Gene transfer into Stem Cell Unit at the San Raffaele Telethon Institute for GeneTherapy (SR-Tiget) in Milan, Italy.
\nPrincipal interest(s): Gene therapy for blood diseases, hemoglobinopathies, hematopoietic stem cell biology, molecular control of erythropoiesis
\nArea(s) of research: Gene therapy for hemoglobinopathies, HSC-niche interaction, definition of hematopoiesis in thalassemia and hematopoietic reconstitution after gene therapy<\/p>\n

Giuliana Ferrari will be giving a talk about \u201cGene therapy for hemoglobinopathies\u201d on Tuesday, June 18.<\/div>

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\"Hilary<\/div><\/div>
Hilary Finucane<\/span>Schmidt Fellow<\/span><\/div><\/div>
Hilary Finucane is a Schmidt Fellow at the Broad Institute of MIT and Harvard in Cambridge, United States.
\nPrincipal interest(s): Statistical genetics<\/p>\n

Hilary Finucane will be giving a talk about \u201cPartitioning complex trait heritability into functional and tissue-specific categories using LD score regression\u201d on Monday, June 17.<\/div>

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\"Krista<\/div><\/div>
Krista Fisher<\/span>Professor<\/span><\/div><\/div>
Krista Fisher will be giving a talk about \u201cPolygenic risk scores in genetic epidemiology\u201d on Sunday, June 16.<\/div><\/div><\/div>
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\"Paul<\/div><\/div>
Paul Flicek<\/span>Professor<\/span><\/div><\/div>
Paul Flicek is a Team Leader and Senior Scientist at the European Molecular Biology Laboratory’s European Bioinformatics Institute, in Cambridge, United Kingdom.<\/p>\n

Principal interest(s): Using computational methods to understand the evolution and maintenance of tissue specific transcriptional profiles.
\nArea(s) of research: Comparative regulatory genomics, the evolution of transcriptional regulation and annotation of the non-coding genome.<\/p>\n

Paul Flicek will be giving a talk about \u201cTissue-specific enhancer and promoter evolution in mammals\u201d on Saturday, June 15.<\/div>

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\"Lars<\/div><\/div>
Lars Forsberg<\/span>Associate Professor <\/span><\/div><\/div>
Lars Forsberg is an associate professor at the Department of Immunology, Genetics and Pathology at Uppsala University, Sweden.
\nPrincipal interest(s): Loss of chromosome Y (LOY) in blood cells and its association with human health and disease
\nArea(s) of research: Somatic mosaicism with focus on loss of chromosome Y (LOY) and disrupted immune cell functions, transcriptomics, single cell biology, common disease<\/p>\n

Lars Forsberg will be giving a talk about \u201cLoss of chromosome Y: From discovery to impact\u201d on Sunday, June 16.<\/div>

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\"Francois<\/div><\/div>
Francois Foulquier<\/span>Professor<\/span><\/div><\/div>
Francois Foulquier is a Research Director of the Structural and Functional Glycobiology Unit at the CNRS in Lille, France.
\nPrincipal interest(s): Molecular and physiopathological basis of Congenital Disorders of Glycosylation
\nArea(s) of research: Fully understand\/ characterize the importance of ER\/ Golgi ionic homeostasis on glycosylation processes with a special focus on the molecular mechanisms of ER\/ Golgi Ca2+ \/ Mn2+ homeostasis.<\/p>\n

Francois Foulquier will be giving a talk about \u201cLink between Golgi ion homeostasis defects and Congenital Disorders of Glycosylation\u201d on Monday, June 17.<\/div>

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\"Benjamin<\/div><\/div>
Benjamin Freedman<\/span>Assistant Professor <\/span><\/div><\/div>
Christoph Bock is a Assistant Professor at the University of Washington in Washington, United States.
\nPrincipal interest(s): As a stem cell scientist, I seek to understand how microscopic events in human cells produce intricate, beautiful, functional macroscopic organs and tissues, and how imperfections in this process result in disease. A driving motive in this intellectual pursuit is to gain the tools and knowledge required to guide the development of safe and efficacious 21st century therapies. My model system is the developing human kidney, a beautiful, intricate, and essential organ responsible for cleaning and regulating the chemicals in our bodies.
\nArea(s) of research: In 2015, Dr. Freedman invented a method to change human pluripotent stem cells into kidney organoids, with nephron segments and functional characteristics. Our lab combines human kidney organoids with genome editing and high-throughput automation to study a range of disease states including polycystic kidney disease, glomerulonephritis, cystinosis, and nephrotoxic injury. Ultimately these studies are leading towards new therapies involving kidney regeneration, gene therapy, and precision medicine.<\/p>\n

Benjamin Freedman will be giving a talk about \u201cThe future of Kidney care\u201d on Sunday, June 16.<\/div>

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\"Mikko<\/div><\/div>
Mikko Frilander<\/span>Professor<\/span><\/div><\/div>
Mikko Frilander is a Research director of the genome biology program at the Institute of Biotechnology at the University of Helsinki, Finland
\nPrincipal interest(s): My laboratory works with pre-mRNA processing, specifically focusing on minor spliceosome. Over the years we have investigated the mechanism of minor intron recognition, regulation of the minor spliceosome and diseases associated with the minor spliceosome.
\nArea(s) of research: Genomics, transcriptomics, bioinformatics, molecular biology, structural biology<\/p>\n

Mikko Frilander will be giving a talk about \u201cMinor spliceosome and disease\u201d on Sunday, June 16.<\/div>

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\"Fran\u00e7ois<\/div><\/div>
Fran\u00e7ois Fuks<\/span>Professor<\/span><\/div><\/div>
Fran\u00e7ois Fuks will be giving a talk about \u201cDNA methylation-based immune response in cancer\u201d on Saturday, June 15.<\/div><\/div><\/div>
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\"Andrea<\/div><\/div>
Andrea Gaedigk<\/span>Professor<\/span><\/div><\/div>
Andrea Gaedigk will be giving a talk about \u201cPharmacogenomics based personalized drug treatment across world populations\u201d on Sunday, June 16.<\/div><\/div><\/div>
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\"Clara<\/div><\/div>
Clara Gaff<\/span>Executive Director <\/span><\/div><\/div>
Clara Gaff is an executive director at the Melbourne Genomics Health Alliance in Australia.<\/p>\n

Clara Gaff will be giving a talk about \u201cPreparing for genomic medicine: a real world demonstration of health system change\u201d on Saturday, June 15.<\/div>

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\"David<\/div><\/div>
David Garfield<\/span>Professor<\/span><\/div><\/div>
David Garfield is a research group leader at the IRI Liefe Science Core Group at the Humbolt University in Berlin.
\nPrincipal interest(s): His scientific interest focuses on Squishy things that live in the oceans. And sometimes human genetics.
\nArea(s) of research: Evolutionary Biology, Developmental Biology.
\nDavid Garfield will be giving a talk about \u201cIdentifying DNA-regulatory elements in non-traditional model systems\u201d on Monday, June 17.<\/p>\n<\/div><\/div><\/div>
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\"Nick<\/div><\/div>
Nick Goldman<\/span>Professor<\/span><\/div><\/div>
Nick Goldman will be giving a talk about \u201cGlobal approaches to data sharing and data integration\u201d on Tuesday, June 18.<\/div><\/div><\/div>
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\"Abel<\/div><\/div>
Abel Gonzalez-Perez <\/span>Ramon y Cajal Research Associate<\/span><\/div><\/div>
Abel Gonzalez-Perez is a Ramon y Cajal research associate at the Institute for Research in Biomedicine in Barcelona, Spain.
\nPrincipal interest(s): Cancer Genomics, Human Genomics and Bioinformatics
\nArea(s) of research: Cancer Genomics, Human Genomics and Bioinformatics<\/p>\n

Abel Gonzalez-Perez will be giving a talk about \u201cUnderstanding mutational processes\u201d on Monday, June 17.<\/div>

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\"Garrett<\/div><\/div>
Garrett Hellenthal<\/span>Associate Professor <\/span><\/div><\/div>
Garrett Hellenthal is an associate professor at the University College in London, United Kingdom.
\nPrincipal interest(s): inferring human ancestry and admixture
\nArea(s) of research: statistical\/population genetics<\/p>\n

Garrett Hellenthal will be giving a talk about \u201cTiming past admixture events and characterizing their consequences in contemporary human populations\u201d on Tuesday, June 18.<\/div>

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\"Lidewij<\/div><\/div>
Lidewij Henneman<\/span>Associate Professor, Director of Amsterdam Reproduction & Development research institute <\/span><\/div><\/div>
Lidewij Henneman is an associate professor, a director of the Reproduction and Development Research Institute at the Amsterdam UMC, location VU University Medical Center.
\nPrincipal interest(s): The implementation, dynamics and impact of (reproductive) genetic tests, patients perspectives, genetic risk and decision-making
\nArea(s) of research: Prenatal screening, preconception carrier screening, neonatal screening<\/p>\n

Lidewij Henneman will be giving a talk about \u201cWhat this variant will mean for my baby?\u201d on Sunday, June 16.<\/div>

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\"Jens<\/div><\/div>
Jens Hjerling Leffler<\/span>Associate Professor<\/span><\/div><\/div>
Jens Hjerling Leffler is an associate professor at the Karolinska Institutet in Solna, Sweden.
\nPrincipal interest(s): His work aims at understanding, on a cell type-specific level, what are the intrinsic and extrinsic mechanisms required for postnatal development of the nervous system and how these can affect the etiology of disease. The work of his team and him is based on the conviction that by bringing their analysis to the level of defined types of cells in vivo they can drastically increase the specificity of measurements and thereby furthering their understanding of the brain.
\nArea(s) of research: Neuroscience, adolescent brain development, schizophrenia<\/p>\n

Jens Hjerling Leffler will be giving a talk about \u201cSingle cell RNA sequencing in psychiatric disorders\u201d on Sunday, June 16.<\/div>

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\"Denis<\/div><\/div>
Denis Horgan<\/span>Professor<\/span><\/div><\/div>
Denis Horgan will be giving a talk about \u201cMillion European Genomes Alliance (MEGA)\u201d on Tuesday, June 18.<\/div><\/div><\/div>
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\"Magnus<\/div><\/div>
Magnus Ingelman-Sundberg<\/span>Senior Professor<\/span><\/div><\/div>
Magnus Ingelman-Sundberg is a senior professor at the Karolinska Institutet in Stockholm, Sweden.
\nPrincipal interest(s): Liver disease, mechanisms of chronic drug hepatotoxicity, pharmacogenomics
\nArea(s) of research: Genetics, pharmacology, toxicology<\/p>\n

Magnus Ingelman-Sundberg will be giving a talk about \u201cIntegrating pharmacogenomics into personalized drug treatment\u201d on Sunday, June 16.<\/div>

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\"Natalie<\/div><\/div>
Natalie Jaeger<\/span>Group Leader<\/span><\/div><\/div>
Natalie Jaeger is a group leader at the Hopp Children\u2019s Cancer Center at the NCT Heidelberg (KiTZ) and at the Division of Pediatric Neurooncology (B062) department at the German Cancer Research Center (DKFZ) in Heidelberg, Germany.
\nPrincipal interest(s): Identification and classification on of genetic and epigenetic changes in childhood tumors using computational methods
\nArea(s) of research: Computational genomics, pediatric cancer, hereditary cancer predisposition, medulloblastoma<\/p>\n

Natalie Jaeger will be giving a talk about \u201cThe landscape of genomic alteration across childhood cancers\u201d on Monday, June 17.<\/div>

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\"Mattias<\/div><\/div>
Mattias Jakobsson<\/span>Professor<\/span><\/div><\/div>
Mattias Jakobsson will be giving a talk about \u201cTales of Human Migration, Admixture, and Selection\u201d on Tuesday, June 18.<\/div><\/div><\/div>
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\"Frederik<\/div><\/div>
Frederik Lanner<\/span>Assistant Professor<\/span><\/div><\/div>
Frederik Lanner is an assistant professor at the Karolinska Institutet in Stockholm, Sweden.
\nArea(s) of research: Early human development, pluripotent stem cells and regenerative medicine<\/p>\n

Frederik Lanner will be giving a talk about \u201cSingle Cell transcriptional analysis of early human embryo development and stem cells\u201d on Saturday, June 15.<\/div>

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\"Johannes<\/div><\/div>
Johannes Lemke<\/span>Professor<\/span><\/div><\/div>
Johannes Lemke will be giving a talk about \u201cDe novo variants in neurodevelopmentals disorders with epilepsia\u201d on Monday, June 17.<\/div><\/div><\/div>
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\"Anna<\/div><\/div>
Anna Lindstrand<\/span>Associate Professor <\/span><\/div><\/div>
Anna Lindstand is Associate Professor and specialist in Clinical Genetics. Head of the Clinical Genetics diagnostic laboratory at the Karolinska University Hospital and group leader for Rare Diseases research group at the Department of Molecular Medicine and Surgery at the Karolinska Institutet, in Sweden. Co-chair of Genomic Medicine Sweden Rare Diseases.
\nArea(s) of research: The study of rare genetic diseases, both clinically and at the molecular level to improve genetic diagnostics, increase knowledge about genotype-phenotype correlations and further understanding of disease biology. Especially interested structural genomic variation, how it forms and how it causes human genetic disease. Detailed characterization of chromosomal rearrangements is performed with a variety of methodologies and next generation sequencing platforms. Findings are functionally validated in induced pluripotent stem cells and zebrafish embryos.<\/p>\n

Anna Lindstrand will be giving a talk about “Delineating the structure of chromosome rearrangements using multiple WGS technologies” on Sunday, June 16.<\/div>

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\"Bart<\/div><\/div>
Bart Loeys<\/span>Professor<\/span><\/div><\/div>
Bart Loeys will be giving a talk about \u201cEpistasis in Cardiac defects\u201d on Monday, June 17.<\/div><\/div><\/div>
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\"Scott<\/div><\/div>
Scott Lowe<\/span>Professor<\/span><\/div><\/div>
Scott Lowe will be giving a talk about \u201cTumour supressor function restoration: role in tumour reversion and response to treatment\u201d on Sunday, June 16.<\/div><\/div><\/div>
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\"Mitchell<\/div><\/div>
Mitchell Machiela<\/span>Earl Stadtman Investigator <\/span><\/div><\/div>
Mitchell Machiela is an Earl Stadtman Investigator at the National Cancer Institute in Maryland, United States.
\nPrincipal interest(s): Germline genetics and genetic mosaicism
\nArea(s) of research: Cancer<\/p>\n

Mitchell Machiela will be giving a talk about \u201cChromosome Y and the ageing genome\u201d on Sunday, June 16.<\/div>

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\"Lynne<\/div><\/div>
Lynne E. Maquat<\/span>J. Lowell Orbison Endowed Chair and Professor<\/span><\/div><\/div>
Lynne Elizabeth Maquat is the J. Lowell Orbison Endowed Chair and Professor of Biochemistry & Biophysics in the School of Medicine and Dentistry, Director of the Center for RNA Biology, and Chair of Graduate Women in Science at the University of Rochester, Rochester, NY, USA.
\nPrincipal interest(s): MicroRNA decay and functional links between transcription factors and RNA-binding proteins
\nArea(s) of research: Professor Maquat discovered nonsense-mediated mRNA decay (NMD) in mammalian cells and, subsequently while elucidating the mechanism of NMD, the exon-junction complex (EJC) and how the EJC marks mRNAs for a quality-control \u201cpioneer\u201d round of protein synthesis. She also discovered Staufen-mediated mRNA decay, which mechanistically competes with NMD and, by so doing, new roles for short interspersed elements and long non-coding RNAs.<\/p>\n

Lynne Maquat will be giving a talk about \u201cAlu-elements and cellular RNA metabolism\u201d on Sunday, June 16.<\/div><\/div><\/div>

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\"John<\/div><\/div>
John Marioni<\/span>Professor<\/span><\/div><\/div>
John Marioni will be giving a talk about \u201cUsing single cell genomics to understand cell fate decisions\u201d on Saturday, June 15.<\/div><\/div><\/div>
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\"Alicia<\/div><\/div>
Alicia Martin<\/span>Instructor <\/span><\/div><\/div>
Alicia Martin is an instructor at the Massachusetts General Hospital and Broad Institute of MIT and Harvard in Boston, United States.
\nPrincipal interest(s): Population and statistical genetics, health disparities, human evolution
\nArea(s) of research: Eurocentric study biases and impacts on genetic risk prediction across diverse populations<\/p>\n

Alicia Martin will be giving a talk about \u201cConsequences of population genetic differences in genetic risk prediction across diverse human populations\u201d on Tuesday, June 18.<\/div>

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\"Ellen<\/div><\/div>
Ellen T. Matloff<\/span>CEO<\/span><\/div><\/div>
Ellen Matloff is a CEO at the My Gene Counsel, LLC in the United States.
\nPrincipal interest(s): Genetic counseling, genetic testing, population studies, scalable genetic counseling & testing, responsible return of genetic test results, STEM education
\nArea(s) of research: Errors in the return of genetic test results; scalable genetic testing & counseling; user engagement and updates around genetic test results<\/p>\n

Ellen Matloff will be giving a talk about \u201cGenetics and Social Media\u201d on Monday, June 17.<\/div>

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\"Gert<\/div><\/div>
Gert Matthijs<\/span>Professor in Human Genetics, Medical Genetic Laboratory Supervisor <\/span><\/div><\/div>
Gert Matthijs is the head of the molecular diagnostic laboratory at the Center for Human Genetics, University of Leuven, Belgium and the President of the Belgian Society of Human Genetics (BeSHG). Co-author of ‘The Human Recipe’, a book about human genetics for a broad audience.
\nPrincipal interest(s): Molecular diagnostics of rare diseases, including NGS diagnostics, quality in genetic testing, Former coordinator of EuroGentest
\nArea(s) of research: Systematic search for novel types of Congenital Disorders of Glycosylation (CDG), and the introduction of genomic medicine into public health care<\/p>\n

Gert Matthijs will be giving a talk about \u201cGenetic heterogeneity in CDG: where are the patients?\u201d on Monday, June 17.<\/div><\/div><\/div>

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\"Ohad<\/div><\/div>
Ohad Medalia<\/span>Professor<\/span><\/div><\/div>
Ohad Medalia is a professor at the Department of Biochemistry at the University of Zurich, Switzerland.
\nPrincipal interest(s): The overall aim of the Medalia group is to understand the cellular remodeling of bio-macromolecules and structure-function relations of large protein machines during cellular processes, using three-dimensional (3D) microscopy approaches.
\nArea(s) of research: We are interested in the structure and functions of the nuclear lamina, the nuclear pore complex as well as other component of the cell cytosckeleton. organization to the retrieval of structures of large macromolecular complexes in situ, using 3D averaging of sub-tomograms from eukaryotic cells. In our research, our major expertise is the applications of cryo-electron tomography to in situ structural studies.<\/p>\n

Ohad Medalia will be giving a talk about \u201cThe architecture and mechanical properties of the nuclear lamina\u201d on Monday, June 17.<\/div>

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\"Heather<\/div><\/div>
Heather Mefford<\/span>Associate Professor <\/span><\/div><\/div>
Heather Mefford is an Associate Professor of Pediatrics at the University of Washington in the Division of Genetic Medicine and attending physician at Seattle Children’s Hospital in the Genetic Medicine Clinic in the United States.
\nPrincipal interest(s): Gene discovery in pediatric disorders; clinical genetics and genomics; neurogenetics
\nArea(s) of research: Genetics of epilepsy<\/p>\n

Heather Mefford will be giving a talk about \u201cParental Mosaicism in “De Novo” Epileptic Encephalopathies\u201d on Monday, June 17.<\/div>

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\"Eva<\/div><\/div>
Eva Morava<\/span>Professor<\/span><\/div><\/div>
Eva Morava is a Professor of Medical Genetics at the Mayo Clinic in Minnesota, Rochester, United States.
\nPrincipal interest(s): Inborn errors of metabolism with major focus on congenital disorders of glycosylation (CDG) and mitochondrial disorders.
\nArea(s) of research: Therapy development in CDG and understanding the biochemical regulation of glycosylation.<\/p>\n

Eva Morava will be giving a talk about \u201cCDG therapies\u201d on Monday, June 17.<\/div>

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\"Andrew<\/div><\/div>
Andrew Morris<\/span>Professor<\/span><\/div><\/div>
Andrew Morris is a professor of Statistical Genetics Department at the University of Liverpool, United Kingdom.
\nPrincipal interest(s): His research focuses on the development, evaluation and application of methodology for the analysis of genome-wide association and sequencing studies. He works across international collaborative efforts to understand the genetic contribution to a wide range of complex human traits, including type 2 diabetes and related metabolic traits, kidney function, blood pressure, anthropometric traits and endometriosis.
\nArea(s) of research: Primary areas of research include methodology for combining association studies from diverse populations and fine-mapping of loci to prioritise causal variants and genes.<\/p>\n

Andrew Morris will be giving a talk about \u201cTaking it further: trans-ethnic association analysis accounting for ancestry increases power for discovery and improves fine-mapping resolution\u201d on Monday, June 17.<\/div>

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\"Francesco<\/div><\/div>
Francesco Muntoni<\/span>Professor, Head of the Dubowitz Neuromuscular Centre <\/span><\/div><\/div>
Francesco Muntoni is a professor of Paediatric Neurology at the University College London and at the Great Ormond Street Institute of Child Health in London, United Kongdom. He is also the head of the Dubowitz Neuromuscular Centre.
\nPrincipal interest(s): Clinical and genetic aspects of paediatric neuromuscular disorders
\nArea(s) of research: Genetic basis of neuromuscular diseases; natural history and outcome measures; translational research<\/p>\n

Francesco Muntoni will be giving a talk about \u201cGene therapy\u00a0for inherited neuromuscular disorders\u201d on Tuesday, June 18.<\/div>

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\"Benedetta<\/div><\/div>
Benedetta Mussolin<\/span>Lab Technician, Liquid Biopsy Service <\/span><\/div><\/div>
Benedetta Mussolin is a lab technician at the Candiolo Cancer Institute (FPO) in Candiolo, Italy.
\nPrincipal interest(s): Liquid Biopsy and Cancer Genetics
\nArea(s) of research: Oncology and Liquid Biopsy<\/p>\n

Benedetta Mussolin will be giving a talk about \u201cLiquid biopsy to follow clonal evolution in cancer\u201d on Monday, June 17.<\/div>

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\"Kiran<\/div><\/div>
Kiran Musunuru<\/span>MD, PhD, MPH, Associate Professor<\/span><\/div><\/div>
Kiran Musunuru is an associate professor of Cardiovascular Medicine and Genetics in the Perelman School of Medicine at the University of Pennsylvania, United States.
\nArea(s) of research: His research focuses on the genetics of cardiovascular and metabolic diseases and seeks to identify naturally occurring genetic variants that protect against disease and can be used to develop therapies to protect the entire population.<\/p>\n

Kiran Musunuru will be giving a talk about \u201cTherapeutic applications of genome editing to prevent diseases\u201d on Sunday, June 16.<\/div><\/div><\/div>

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\"Simon<\/div><\/div>
Simon Myers<\/span>Professor<\/span><\/div><\/div>
Simon Myers will be giving a talk on Monday, June 17.<\/div><\/div><\/div>
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\"William<\/div><\/div>
William Newman<\/span>Professor<\/span><\/div><\/div>
William Newman is a professor of Translational Genomic Medicine at the Manchester Centre for Genomic Medicine in Manchester, United Kingdom.
\nPrincipal interest(s): Pharmacogenetics, rare diseases including disorders of the lower urinary tract and Perrault syndrome, non-coding and complex mutational mechanisms underlying rare diseases
\nArea(s) of research: Rare disease gene discovery and pharmacogenetics<\/p>\n

William Newman will be giving a talk about \u201cPersonalised Medicine and clinical practice: what it means for patients and healthcare delivery\u201d on Saturday, June 15.<\/div>

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\"Vivienne<\/div><\/div>
Vivienne Parry<\/span>Head of Engagement<\/span><\/div><\/div>
Vivienne Parry is the head of engagement at the Genomics England in London.
\nVivienne is a well known UK science writer and broadcaster and has a long history of public engagement work. She was involved with the 100,000 Genomes Project from the outset and in her presentation considers what the media contributed to its success and how the media in all its forms might be involved in the future.<\/p>\n

Vivienne Parry will be giving an introduction at the session “Debate: Genomics and the Media” on Monday, June 17.<\/div>

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\"Luis<\/div><\/div>
Luis Perreira de Almeida<\/span>Professor<\/span><\/div><\/div>
Luis Perreira de Almeida is a professor at the University of Coimbra – CNC (Centre for Neuroscience and Cell Biology) in Coimbra, Portugal.
\nPrincipal interest(s): Genetic Neurological Disorders, Gene Therapy
\nArea(s) of research: Gene and Stem Cell Therapies for Brain Disorders<\/p>\n

Luis Perreira de Almeida will be giving a talk about \u201cAnimal models of Machado-Joseph disease\u201d on Tuesday, June 18.<\/div>

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\"Ulrike<\/div><\/div>
Ulrike Peters<\/span>Professor<\/span><\/div><\/div>
Ulrike Peters will be giving a talk about \u201cGenetic epidemiology of colorectal cancer \u2013 from discovery to prevention\u201d on Saturday, June 15.<\/div><\/div><\/div>
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\"Sara<\/div><\/div>
Sara Pulit<\/span>Professor<\/span><\/div><\/div>
Sara Pulit will be giving a talk about \u201cLarge scale integration of genetic and ‘omics’ data to find susceptibility genes for complex traits\u201d on Monday, June 16.<\/div><\/div><\/div>
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\"Nadeem<\/div><\/div>
Nadeem Qureshi<\/span>Clinical Professor of Primary Care, Co-Director of Primary Care Stratified Medicine Research Group <\/span><\/div><\/div>
Nadeem Qureshi is a professor at the NIHR School of Primary Care Research and at the University of Nottingham, United Kingdom.
\nPrincipal interest(s): Translating genomic advances to primary care clinical practice
\nArea(s) of research: His research focuses on stratifying patients’ care according to characteristics identified in primary care databases and through genomic testing, developed, in tandem with advances in genomic technology and “big data” research methods. The current research and development falls into two broad research method areas:
\n1) Data Science (Exemplar work includes stratifying care of patients with raised cholesterol)
\n2) Mixed Methods Translational Research (Exemplar studies include improved identification of familial breast cancer)<\/p>\n

Nadeem Qureshi will be giving a talk about \u201cCan genomic profiling improve risk reducing behaviour?\u201d on Sunday, June 16.<\/div>

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\"Raheleh<\/div><\/div>
Raheleh Rahbari<\/span>Career Development Fellow <\/span><\/div><\/div>
Raheleh Rahbari is a career development fellow at the The Wellcome Sanger Institute in Cambridge, United Kingdom.
\nPrincipal interest(s): Mutational origins of human genome during development and their association to ageing and disease<\/p>\n

Raheleh Rahbari will be giving a talk about \u201cSingle cell heterogeneity in human brain and its relation to neurodegenerative diseases\u201d on Sunday, June 16.<\/div>

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\"Lucy<\/div><\/div>
Lucy Raymond<\/span>Professor<\/span><\/div><\/div>
Lucy Raymond will be giving a talk about \u201cRapid NGS for children in intensive care units\u201d on Monday, June 17.<\/div><\/div><\/div>
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\"Samuli<\/div><\/div>
Samuli Ripatti<\/span>Professor of Biometry, Group Leader<\/span><\/div><\/div>
Samuli Ripatti is a professor of Biometry at the University of Helsinki and FIMM-EMBL Research Group Leader at FIMM at Helsinki, Finland.
\nArea(s) of research: Precision medicine, coronary artery disease, genetic epidemiology, risk factors, whole genome sequences, biostatistics and health genomics<\/p>\n

Samuli Ripatti will be giving a talk about \u201cPolygenic risk scores in cardiovascular disease\u201d on Sunday, June 16.<\/div>

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\"Manuel<\/div><\/div>
Manuel Rivas<\/span>Professor<\/span><\/div><\/div>
Manuel Rivas will be giving a talk about \u201cLarge-scale inference of human genetic data\u201d on Monday, June 17.<\/div><\/div><\/div>
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\"Gerald<\/div><\/div>
Gerald Schwank<\/span>Assistant Professor <\/span><\/div><\/div>
Gerald Schwank is an assistant professor at the Institute of Molecular Health Science at the ETH Z\u00fcrich, Switzerland.
\nPrincipal interest(s): Genome editing and adult stem cells
\nArea(s) of research: Establishment of ex vivo gene editing therapies<\/p>\n

Gerald Schwank will be giving a talk about \u201cAdvances in therapeutic CRISPR\/Cas9 genome editing\u201d on Sunday, June 16.<\/div>

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\"Jonathan<\/div><\/div>
Jonathan Sebat<\/span>Professor<\/span><\/div><\/div>
Jonathan Sebat is the Director of the Beyster Center for Psychiatric Genomics of the University of California in San Diego, United States.
\nPrincipal interest(s): Using human genetic approaches to understand the role of genes in brain development and psychiatric traits. Patterns of mutation and selection in the human genome.
\nArea(s) of research: genome sequencing, structural variation, psychiatric genetics, autism spectrum disorders, schizophrenia<\/p>\n

Jonathan Sebat will be giving a talk about \u201cStructural variations in psychiatric disorders\u201d on Sunday, June 16.<\/div>

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\"Eran<\/div><\/div>
Eran Segal<\/span>Professor<\/span><\/div><\/div>
Eran Segal is a professor at the Weizmann Institute of Science in Rehovot, Israel.
\nPrincipal interest(s): Personalized medicine based on clinical and molecular data
\nArea(s) of research: Human genetics, gut microbiome, nutrition, gene regulation<\/p>\n

Eran Segal will be giving a talk about \u201cp53 mutational scanning\u201d on Monday, June 17.<\/div>

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\"Karine<\/div><\/div>
Karine Serre<\/span>Professor<\/span><\/div><\/div>
Karine Serre will be giving a talk about \u201cImmunotherapy in cancer\u201d on Sunday, June 16.<\/div><\/div><\/div>
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\"Roy<\/div><\/div>
Roy Sheppard<\/span>Professor<\/span><\/div><\/div>
Roy Sheppard will be giving a talk about \u201cHow to enhance your career – How to present – How to network\u201d on Saturday, June 15.<\/div><\/div><\/div>
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\"Ali<\/div><\/div>
Ali Shilatifard<\/span>Professor <\/span><\/div><\/div>
Ali Shilatifard will be giving a talk about \u201cEnhancer Logic and Mechanics in Development and Disease.\u201d on Monday, June 17.<\/div><\/div><\/div>
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\"Lea<\/div><\/div>
Lea Starita<\/span>Research Assistant Professor <\/span><\/div><\/div>
Lea Starita is a research assistant professor at the Genome Sciences Department at the University of Washington and at theBrotman Baty Institute for Precision Medicine in Washington, United States.
\nPrincipal interest(s): Developing new methods for understanding the functional effects of genetic variation<\/p>\n

Lea Starita will be giving a talk about \u201cDissecting protein sequence function using Deep Mutational Scans\u201d on Monday, June 17.<\/div>

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\"Maurice<\/div><\/div>
Maurice Swanson<\/span>Professor and Associate Director <\/span><\/div><\/div>
Maurice Swanson ia a professor and an associate director at the Center for NeuroGenetics and the Genetics Institute at the UF College of Medicine in Florida, United States.
\nPrincipal interest(s): RNA processing, RNA binding proteins, microsatellite expansion disease, mouse models of neurological disease
\nArea(s) of research: Biochemistry, Genetics, Transcriptomics<\/p>\n

Maurice Swanson will be giving a talk about \u201cRNA mis-splicing in disease\u201d on Sunday, June 16.<\/div>

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\"Michael<\/div><\/div>
Michael Talkowski<\/span>Associate Professor <\/span><\/div><\/div>
Michael Talkowski is an associate professor at the Massachusetts General Hospital in Boston and at the at Broad Institute at the Harvard University in Cambridge, United States.
\nPrincipal interest(s): Human genetics and genomics
\nArea(s) of research: Genetic etiology of human developmental disorders, functional consequences of structural variation<\/p>\n

Michael Talkowski will be giving a talk about “New sequencing technologies in research and clinics ” on Sunday, June 16.<\/div>

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\"Andrew<\/div><\/div>
Andrew E. Teschendorff<\/span>Professor, Principal Investigator<\/span><\/div><\/div>
Andrew Teschendorff is a Principal Investigator in Computational Systems Genomics at the CAS-MPG Partner Institute of Computational Biology, Shanghai, China and a Newton International Fellow at University College London, UK.
\nPrincipal interest(s): Epigenomics & Systems Biology of Cancer and Aging, Risk prediction of Cancer
\nArea(s) of research: Statistical Methods for Epigenomics and Single-Cell RNA-Seq, Computational Systems Epigenomics, Integration of Multi-Omic Data, Early Detection and Risk Prediction of Cancer<\/p>\n

Andrew Teschendorff will be giving a talk about \u201cCell-type heterogeneity and systems epigenomics of cancer\u201d on Saturday, June 15.<\/div>

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\"Irene<\/div><\/div>
Irene Tiemann-Boege<\/span>Professor<\/span><\/div><\/div>
Irene Tiemann-Boege is a professor at the Johannes Kepler University in Linz, Austria.
\nPrincipal interest(s): Single molecule analysis of genome dynamics, with particular focus on mutagenesis and meiotic recombination
\nArea(s) of research: mutational processes in the male germline, paternal age effect, mutagenic recombination
\nMeiotic recombination hotspots, regulation of hotspots, hotspot sequence evolution
\nTechnological developments such as ultrasensitive rare variant or mutation detection; bead-emulsion amplification, ultra-sensitive sequencing, single molecule PCR, PCR-based mutation detection<\/p>\n

Irene Tiemann-Boege will be giving a talk about \u201cMutagenic recombination\u201d on Monday, June 17.<\/div>

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\"Benjamin<\/div><\/div>
Benjamin Tycko<\/span>Professor<\/span><\/div><\/div>
Benjamin Tycko is a professor of Medical Sciences at the Hackensack-Seton Hall School of Medicine and at the HMH Center for Discovery and Innovation in Nutley, NY, United States.
\nPrincipal interest(s): Epigenomic approaches in common diseases; Epigenetics of Down syndrome
\nArea(s) of research: Dr. Tycko\u2019s group has a long standing research program on epigenetics and DNA methylation in human development and disease processes, including cancer, Down syndrome, neurodegenerative diseases, and autoimmune disorders. Areas of current emphasis include mechanistic studies on genetic-epigenetic interactions that occur in cis and in trans, and the use of epigenomic mapping as a post-GWAS method to identify genes and DNA variants that underlie susceptibility to common human diseases.<\/p>\n

Benjamin Tycko will be giving a talk about \u201cMechanisms and post-GWAS applications of haplotype-dependent allele-specific DNA methylation\u201d on Tuesday, June 18.<\/div>

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\"Jolanda<\/div><\/div>
Jolanda Van Leeuwen<\/span>Assistant Professor<\/span><\/div><\/div>
Jolanda Van Leeuwen is an assistant professor at the Center for Integrative Genomics at the University of Lausanne, Switzerland.
\nPrincipal interest(s): Functional genomics, Genetic networks, Epistasis<\/p>\n

Jolanda Van Leeuwen will be giving a talk about \u201cSystematic analysis of genetic interactions: from yeast to human\u201d on Monday, June 17.<\/div>

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\"Juanma<\/div><\/div>
Juanma Vaquerizas<\/span>Doctor<\/span><\/div><\/div>
Dr. Juanma Vaquerizas is a Max Planck Research Group Leader at the Max Planck Institute for Molecular Biomedicine, in M\u00fcnster, Germany
\nPrincipal interest(s): The Vaquerizas laboratory is interested in understanding the molecular mechanisms that drive chromatin organisation and their impact in health and disease.
\nArea(s) of research: Chromatin organisation; early embryonic development; genomics; disease.<\/p>\n

Juanma Vaquerizas will be giving a talk about \u201c3D genome organisation in disease: patient-specific chromatin interactions from primary tissue\u201d on Monday, June 17.<\/div>

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\"Craig<\/a><\/div><\/div>
Craig Venter<\/span>Founder, Chairman and CEO <\/span><\/div><\/div>
Craig Venter is the founder, chairman and CEO of the J. Craig Venter Institute in La Jolla, CA, United States.<\/p>\n

Craig Venter will be giving the Mendel Lecture on Tuesday, June 18 at 13:30 hrs.<\/div>

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Read the interview Craig Venter gave to Mary Rice.<\/a><\/p>\n<\/div>

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\"Kris<\/div><\/div>
Kris Vleminckx<\/span>Professor<\/span><\/div><\/div>
Kris Vleminckx is a professor at the Ghent University in Belgium.
\nPrincipal interest(s): Modeling of human genetic disorders and cancer syndromes using CRISPR\/Cas9 and TALEN genome editing in the diploid amphibian Xenopus tropicalis
\nArea(s) of research: Focus on (rare) Mendelian disorders, retinal degenerative disease and (pediatric) cancer<\/p>\n

Kris Vleminckx will be giving a talk about \u201cCRISPR\/Cas9 and TALENs fuel genetically engineered clinically relevant Xenopus tropicalis models\u201d on Tuesday, June 18.<\/div>

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\"James<\/div><\/div>
James Walters<\/span>Professor<\/span><\/div><\/div>
James Walters will be giving a talk about \u201cCommon and rare variants in psychiatric disorders\u201d on Sunday, June 16.<\/div><\/div><\/div>
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\"Jeffrey<\/div><\/div>
Jeffrey Weitzel<\/span>Professor<\/span><\/div><\/div>
Jeffrey Weitzel is a professor of Oncology and Population Sciences Chief, Division of Clinical Cancer Genomics at the City of Hope National Medical Center in California, United States.
\nPrincipal interest(s): Multidisciplinary clinical, research, and training programs emphasizing translational research in genomic cancer risk assessment
\nArea(s) of research: Chemoprevention, targeted therapy, clinical and psychosocial outcomes, genetic epidemiology and health services research in under served minorities and in Latin America<\/p>\n

Jeffrey Weitzel will be giving a talk about \u201cFinding a germline mutation during tumor testing: implications for the patient and the family\u201d on Monday, June 17.<\/div>

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\"Cisca<\/a><\/div><\/div>
Cisca Wijmenga<\/span>Professor<\/span><\/div><\/div>
Cisca Wijmenga is a Professor of Human Genetics at the University of Groningen and the University Medical Center Groningen, the Netherlands.
\nPrincipal interest(s): Her scientific interest are understanding genetic and non-genetic factors contributing to complex diseases.
\nArea(s) of research: A strong interest of her work is on intestinal inflammatory diseases, in particular celiac disease. Her research aims at identifying the genetics and how genetic risk factors perturb molecular pathways. She also uses population biobanks to find non-genetic factors modulating disease outcome with a particular interest in the gut microbiome. Finally, she started to use hiPSC technology to build a gut-on-a-chip to study disease mechanisms and integrate genetic and non-genetic risk factors.<\/p>\n

Cisca Wijmenga will be giving the ESHG Award Lecture on “We and our second genome: two key players in common complex diseases” on Tuesday, June 18 at 14:15 hrs.<\/div>

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Read the interview Cisca Wijmenga gave to Mary Rice.<\/a><\/p>\n<\/div>

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\"Sheng<\/div><\/div>
Sheng Zhong<\/span>Professor<\/span><\/div><\/div>
Sheng Zhong is a professor at the University of California, San Diego, United States.
\nPrincipal interest(s): Revealing RNA-RNA, RNA-chromatin, RNA-protein, and protein-protein interactomes
\nArea(s) of research: RNA-chromatin interactions, 4D Nucleome, cell-free RNA<\/p>\n

Sheng Zhong will be giving a talk about \u201c4D Nucleome project\u201d on Monday, June 17.<\/div>

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\"Jo\u00ebl<\/div><\/div>
Jo\u00ebl Zlotogora<\/span>Professor<\/span><\/div><\/div>
Jo\u00ebl Zlotogora will be giving a talk about \u201cNational programs of preconception genetic carrier screening for reproductive purposes\u201d on Tuesday, June 18.<\/div><\/div><\/div>
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