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HUMAN GENOME MEETING 2019

APR 24-26, 2019 | SEOUL, SOUTH KOREA

Plenary Speaker

April 24th, 2019

Diana Bianchi, M.D.

NIH, US

Talk title: "Prenatal Genomic Medicine: Transforming Obstetric Practice and Delivering New Biological Insights"

Diana W. Bianchi is the Director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and an associate investigator in the National Human Genome Research Institute at the National Institutes of Health (NIH). She received her M.D. from Stanford and her postgraduate training in Pediatrics, Medical Genetics and Neonatal-Perinatal Medicine at Boston Children’s Hospital. She is board-certified in all three specialties. Dr. Bianchi’s research focuses on noninvasive prenatal screening and development of novel fetal therapies for genetic disorders. Dr. Bianchi has published over 300 peer-reviewed articles and is one of four authors of Fetology: Diagnosis and Management of the Fetal Patient, which won the Association of American Publishers award for best textbook in clinical medicine in 2000. She is Editor-in-Chief of the International Society for Prenatal Diagnosis’ (ISPD) official journal, Prenatal Diagnosis. She has held multiple leadership positions, including President of the ISPD and the Perinatal Research Society, council membership in the Society for Pediatric Research and the American Pediatric Society, and served as a board member for the American Society for Human Genetics. Dr. Bianchi has received multiple awards, including the 2015 Neonatal Landmark Award from the American Academy of Pediatrics, the 2016 Maureen Andrew Mentor Award from the Society for Pediatric Research, the 2017 Colonel Harland Sanders Award for Lifetime Achievement in Medical Genetics from the March of Dimes, and the J.E. Wallace Sterling Award for Lifetime Achievement in Medicine from Stanford University School of Medicine. In 2013 she was elected to the National Academy of Medicine.

V.Narry Kim, Ph.D.

Seoul National University, South Korea

Talk title: "Mutations in microRNA genes"

V. Narry Kim has made major contributions to RNA biology. She has been studying how microRNAs and mRNAs are made and regulated, and what microRNAs and mRNAs do to modulate cell signaling in cancer and embryonic stem cells. Her research group found and investigated several key factors in the microRNA pathway including Drosha, DGCR8, and Lin28, and discovered many pluripotent stem cell-specific microRNAs. More recently, Kim uncovered new gene regulatory mechanisms through RNA tailing such as uridylation and adenylation, and identified the factors and biological functions of RNA tailing.

Narry Kim currently serves as the Director of RNA Research Center at Institute for Basic Science and a Professor of Biological Sciences at Seoul National University. She received her Ph.D. in 1998 from Oxford University, UK, where she studied the functions of retroviral proteins in the construction of gene transfer vectors in the Kingsman lab. She then carried out her postdoctoral research on mRNA surveillance in the laboratory of Gideon Dreyfuss at the University of Pennsylvania, USA. She set up her own research group at Seoul National University in 2001. Narry Kim received L’Oreal-UNESCO Women in Science Award (2008), the Ho-Am Prize in Medicine (2009), the S-Oil Fellowship (2013), the Korea S&T Award (2013) and Chen Award(2017), and was elected as Foreign Associate of European Molecular Biology Organization (EMBO, 2013), Foreign Associate of National Academy of Science (NAS, 2014), and Member of Korean Academy of Science and Technology (KAST, 2014).

April 25th, 2019

Harry Ostrer, M.D.

Albert Einstein College of Medicine, US

Talk title: "Personalized medicine, precision medicine and global health"

Harry Ostrer, M.D. is Professor of Pathology and Pediatrics at Albert Einstein College of Medicine in New York. He studies the genetic basis for disorders of sex development and other rare conditions, having recently identified the role of the signal transducing MAP kinase pathway in gonadal development. He also studies the genetic basis of prostate, breast and colorectal cancer and adverse outcomes associated with their treatment. In the diagnostic laboratory, he translates the findings of genetic discoveries into tests that can be used to identify people’s risks for having a disease prior to its occurrence or for predicting its outcome once it has occurred. Dr. Ostrer is a long-time investigator of the genetics of the Jewish people and Hispanic and Latino people. In 2007, he organized the Jewish HapMap Project, an international effort to map and sequence the genomes of Jewish people. In a series of publications about Abraham’s Children in the Genome Era, Dr. Ostrer and his team of investigators demonstrated that the history of the Jewish Diasporas could be seen in the genomes of contemporary Jewish people. In his book, Legacy: A Genetic History of the Jewish People, he explored how population genetic could affect group identity. During his recent sabbatical at the Netherlands Institute for Advanced Study, he worked on studies to analyze the population genetics of Christians, Jews and pagans from Classical Antiquity up to the Middle Ages.

April 26th, 2019

Leslie Biesecker, M.D.

ASHG, US

Talk title: "The Myths of Clinical Genomics"

Dr. Biesecker is a clinical and molecular geneticist and is the chief of the Medical Genomics and Metabolic Genetics Branch at the National Human Genome Research Institute (NHGRI) of the National Institutes of Health. He uses genetic and genomic technologies to study the etiology of inherited disorders. He received his medical training at the University of Illinois, training in pediatrics at the University of Wisconsin, and in clinical and molecular genetics at the University of Michigan. His laboratory has elucidated the etiology and natural history of numerous diseases, including Proteus syndrome, PIK3CA-related overgrowth syndrome, TARP syndrome, oculofaciocardiodental syndrome, Lenz microphthalmia syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome, Pallister-Hall syndrome and Amish microcephaly, and has contributed to the discovery of many others. In addition, he developed the ClinSeq® program, which has consented more than 1,000 subjects for whole-genome sequencing with the interpretation and return of results. He co-directs a Clinical Laboratory Improvement Ammendments (CLIA)-certified molecular diagnostic laboratory within NHGRI.

Dr. Biesecker serves as an editor or board member for four biomedical journals, is an advisor to the Illumina Corporation and was a member of the board of directors for the American Society of Human Genetics. He served on advisory panels for the World Trade Center and Hurricane Katrina victim identification efforts. He was recently elected to the National Academy of Medicine of the National Academy of Sciences and has been elected to be the president of the American Society of Human Genetics for 2019.

Symposium Speaker

April 24th, 2019
Symposium 1 – Functional Variation of Non-coding DNAs

Yoav Gilad, Ph.D.

The University of Chicago, US

Talk title: "Functional genomics studies in humans; understanding the regulatory code and realizing personalized medicine"

Dr. Yoav Gilad completed his Ph.D in Molecular Genetics from the Weizmann Institute of Science in Israel in 2003, and his Post-doctoral fellowship (which was funded by EMBO) at Yale in 2005. Dr. Gilad joined the faculty of the University of Chicago at the department of Human Genetics as an Assistant Professor in 2005. He was promoted to a tenured Associate Professor in 2009, and to a Full Professor of Human Genetics in 2013. In 2016, Dr. Gilad was appointed a Professor of Medicine, and the Chief of the section of Genetic Medicine and the Vice Chair for Research at the Department of Medicine. In addition to his academic appointments, Dr. Gilad was appointed in 2010 as the Director of the Functional Genomics facility at the University of Chicago. In 2014, Dr. Gilad was appointed Chair of the Committee on Genetics, Genomics, and Systems Biology, at University of Chicago.

Chris Tyler-Smith, Ph.D.

Wellcome Sanger Institute, UK

Talk title: "Modelling human positively-selected alleles in mice"

Dr.Tyler-Smith’s background is in human molecular and evolutionary genetics, and from 1986 to 2003, my research in the Department of Biochemistry, University of Oxford, concentrated on understanding the structure and function of human centromeres, responsible for proper segregation of the chromosomes when the cell divides.

He investigates genetic variation in human populations and the insights this provides into gene function and human evolution. He has contributed to large international projects such as the 1000 Genomes Project and African Genome Variation Project. Now, we focus on understanding genetic variation in Africa more thoroughly, as well as variation in many other parts of the world including the Middle East, the Himalayas, the Pacific and the Americas.

He also study the functional consequences of genetic variants, including knockouts of human genes in healthy people, and modelling advantageous variants in mice or human cells.

Symposium 2 - KOGO Session

Jeong Ho Lee, Ph.D.

KAIST, South Korea

Talk title: "Brain somatic mutations in neurological disorders"

His laboratory conducts both human genetics and molecular neurobiology for the research of the human brain. The ultimate goal of his lab is to understand genetic causes and biology of incurable neurological disorders and apply our understanding to genomic medicine by developing better diagnostic tools and therapies. Especially, he has focused on the study of brain somatic mutations as a novel genetic etiology of various neurological disorders.

Jungkyoon Choi, Ph.D.

KAIST, South Korea

Talk title: "Whole-genome homozygosity mapping implicates a social memory gene in autism"

One of the most important discoveries that have been made recently in genetics is that the vast majority of disease risk factors or causal variants lie in noncoding genomic regions. Unlike protein-coding sequences, there are no straightforward methods for the functional interpretation of noncoding elements of the human genome. Jung Kyoon’s group attempts to tackle this problem by mining large-scale epigenomic data and employing machine learning methods. More recently, his group has been actively utilizing advanced machine learning methods to unveil cancer’s genetic vulnerability and develop novel therapeutic strategies for precision immuno-oncology. He started working at KAIST as Assistant Professor in 2009 with joint appointment at the Genome Institute of Singapore as Senior Research Scientist.

Daehee Hwang, Ph.D.

DGIST, South Korea

Talk title: "Proteogenomic analysis of diffuse gastric cancers"

During Ph.D. study at MIT, he developed bioinformatic tools for integrative analyses of gene expression and metabolomic data. In 2003, he started his postdoctoral career at ISB and developed a data integration tool, Pointillist; proteomic data analysis tools, MS-BID and Prequips; a systems approach to prion disease; and a prion disease database. In 2006, he joined POSTECH in Korea and had developed systems approaches for understanding complex human diseases and proteomic approaches for identifying protein tissue/serum biomarkers for complex human diseases. In 2010, he became the director of System Biodynamics-National Core Research Center (NCRC). He developed tools for understanding spatiotemporal operations of biological networks. In 2013, he moved to DGIST in Korea and have been working on proteogenomic analyses of early onset gastric cancers and lung adenocarcinoma and network analysis of complex biological systems.

April 25th, 2019
Symposium 3 - Provision of Genetics Services & Testing

Mark Caulfield, Ph.D.

Genomics England, UK

Talk title: "The 100,000 Genomes Project – transforming genomic health"

Mark Caulfield graduated in Medicine in 1984 from the London Hospital Medical College and trained in Clinical Pharmacology at St Bartholomew’s Hospital where he developed a research programme in molecular genetics of hypertension and clinical research.

In 2009 he won the Lily Prize of the British Pharmacology Society. In 2000 he established the Barts and The London Genome Centre which now underpins over 40 programmes of research. Since 2008 he directs the Barts National Institute for Health Research Cardiovascular Biomedical Research Unit.

Mark was appointed Director of the William Harvey Research Institute in 2002 and was elected a Fellow of the Academy of Medical Sciences in 2008. He led on fundraising towards the £25m William Harvey Heart Centre which created a translational clinical research centre.

Mark served on the NICE Guideline Group for hypertension and leads the Joint UK Societies’ Working Group and Consensus on Renal Denervation and was President of the British Hypertension Society (2009-2011).

In 2013 he became an NIHR Senior Investigator and was appointed as the Chief Scientist for Genomics England (NHS 100K Sequencing Project) 2013-ongoing.

Guida Landouré, M.D., Ph.D.

University of Bamako, Mali

Talk title: "Genetics of neurogenetic diseases: bringing Africa into play"

Dr. Guida Landouré is an Assistant Professor at the University of Science, Technique and Technology of Bamako (USTTB), Mali where he did his medical training before joining the National Institutes of Health (NIH) as visiting fellow from 2004 to 2007. He has a PhD from the University College London, London, UK in Neurology and Medical Genetics. Dr. Landouré is the head of the Laboratory Neurogenetics at the Faculty of Medicine and Dentistry of Bamako (USTTB), Mali working on hereditary neurological disorders including peripheral neuropathies, ataxia, myopathy and spastic paraplegia. His work has led to the characterization of new clinical entities, and the discovery and characterization of the gene for several neurological diseases. His interest goes beyond the field of neurology, and he is collaborating with other researchers on the genetics of non-syndromic hearing loss in the African population and other genetic disorders.

Symposium 4 - Breakthroughs in Cancer Genomics

Nic Waddell, Ph.D.

QIMR Berghofer Medical Research Institute, Australia

Dr Nic Waddell is head of the Medical Genomics group at QIMR Berghofer Medical Research Institute, Australia. She is a cancer researcher and collaborative bioinformatician who is an expert in the interpretation of next generation sequence data. Her research group focuses on the identification of mutational processes and therapeutic opportunity in cancer. She is a member of the International Cancer Genome Consortium (ICGC) and her research group has played a key role in all three Australian ICGC projects (pancreatic, ovarian and melanoma). She leads the genomics within several other cancer genome projects including oesophageal, mesothelioma and familial cancers. She has published in high impact journals such as Nature, Nature Genetics and Nature Immunology.

She has a passion for seeing genomics implemented into the clinic. She is a co-founder of genomiQa, a precision analytics company who specialise in the analysis of whole genome data. She is a member of the Australian Genomics Health Alliance (AGHA) and the Queensland Genomics Health Alliance (QGHA). Within QGHA she co-leads the ethics, legal and social working group who are developing a series of guidelines and policies to support a range of these matters including community engagement, consent and the clinical use of genomics.

Nickolas Papadopoulos, Ph.D.

Johns Hopkins School of Medicine, US

Talk title: "Non-invasive early detection of cancer"

Dr. Nickolas Papadopoulos is internationally known as a co‐discoverer of the genetic basis of the predisposition to hereditary nonpolyposis colon cancer (HNPCC), one of the most common hereditary forms of cancer, earlier in his career. He is known for the development of diagnostic tests and he is considered an expert in cancer genetics and diagnostics. He was part of the interdisciplinary team that was first to sequence all of the protein coding genes, determine genetic alterations and construct expression profiles of four common tumor types. Later he was involved in the identification of genetic alterations that drive tumorigenesis in multiple tumor types. Noteworthy discoveries he has made include the identification of novel mutations in chromatin remodeling genes in ovarian clear cell carcinomas and pancreatic neuroendocrine tumors. Currently, he is focused on translating the genetic information derived from cancer genome analyses to clinical applications in early detection, diagnosis and monitoring of cancer. He is a co-developer of sensitive methods for the detection of tumor DNA in liquid biopsy. He is also the co-founder of two companies that develop diagnostics for cancer.

Symposium 5 - Emerging Concepts of the Microbiome

Eran Segal, Ph.D.

Weizmann Institute of Science, Israel

Talk title: "Personalized medicine using gut microbiome and clinical data"

Eran Segal is a Professor at the Department of Computer Science and Applied Mathematics at the Weizmann Institute of Science, heading a lab with a multi-disciplinary team of computational biologists and experimental scientists in the area of Computational and Systems biology. His group has extensive experience in machine learning, computational biology, probabilistic models, and analysis of heterogeneous high-throughput genomic data. His research focuses on Nutrition, Genetics, Microbiome, and Gene Regulation and their effect on health and disease. His aim is to develop personalized nutrition and personalized medicine.

Prof. Segal published over 130 publications, and received several awards and honors for his work, including the Overton prize, awarded annually by the International Society for Bioinformatics (ICSB) to one scientist for outstanding accomplishments in computational biology, and the Michael Bruno award. He was recently elected as an EMBO member and as a member of the young Israeli academy of science.

Before joining the Weizmann Institute, Prof. Segal held an independent research position at Rockefeller University, New York.

Cisca Wijmenga, Ph.D.

University of Groningen, Netherlands

Talk title: "Men, Microbes and Mini-guts"

Cisca Wijmenga (1964) is considered one of the world leaders in the study of the genetics of coeliac disease. Her interdisciplinary research team covers genetics, molecular genetics, epidemiology, immunology, computational biology and bioinformatics. Over the past 15 years, her work has led to a huge advance in the understanding of the disease aetiology, pathology and its genetic basis, and also to models to identify people at risk for developing coeliac disease to allow for prevention and early treatment. She has identified 39 genetic risk loci for coeliac disease and made the important observation that several immune-mediated diseases share part of their genetic basis. This has given the field a strong new impetus, inspiring many projects on other such diseases like rheumatoid arthritis, type 1 diabetes, and Crohn’s disease.

She first postulated the concept of ‘shared genetics for immune-mediated diseases’ in 2005 and was awarded a VICI grant by the Netherlands Organization for Scientific Research (NWO). She has continued to refine this concept and confirmed that celiac disease does indeed share genetic factors with Crohn’s disease, rheumatoid arthritis and type 1 diabetes, presenting the evidence in a highly cited review (Nature Reviews Genetics, 2009). The confirmation of her hypothesis inspired the development of the Immunochip by an international consortium for use in genome-wide association studies. This specific chip is used to screen DNA variants covering all the known immune-related genes. She has performed genome-wide association studies with this chip and they were the first group in the consortium to report their findings (Nature Genetics, 2011).

Her interdisciplinary approach, her unique and large collections of patient materials, her many research partners, and her use of cutting-edge technology mean she is in an excellent position to move beyond gene discovery and translate findings about genetic predisposition into insights on disease mechanisms. She was awarded an ERC advanced grant in 2012 to continue this work.

George Weinstock, Ph.D.

The Jackson Laboratory, US

Talk title: "The host, the Microbiome, and vice versa"

Dr. George Weinstock is a Professor and Director of Microbial Genomics at the Jackson Laboratory for Genomic Medicine where he established a group devoted to genomic studies of infectious diseases and the human microbiome. The group collaborates extensively with clinicians to apply genomic analyses to a wide range of medical problems. The goal of the metagenomics projects is to determine the role of the microbiome in health and disease with the aim of providing new diagnostic and therapeutic approaches. His group played a leading role in the NIH Human Microbiome Project including both basic science and clinical studies and his current research follows on those projects. Dr. Weinstock was previously the co-director of the Human Genome Sequencing Center at Baylor College of Medicine in Houston, Texas where he was one of the leaders of the Human Genome Project. He also directed a number of human and mammalian genetics projects aimed at determining genetic causes of conditions such as Retinitis Pigmentosa, Cleft Lip, susceptibility to infection, and the role of host genetics in control of the microbiome. He has also been an innovator in methods for microbial genetics, application of DNA sequencing in genomics, and software for genome analysis, as well as medical and agricultural applications of genomics. His research continues evolving with new issues in DNA sequencing technology.

Symposium 7 - Computational /Statistics Genomics

Pui-Yan Kwok, MD, PhD

UCSF, US

Pui-Yan Kwok, MD, PhD, received his AB (Chemistry), MS (Human Biology), MD, and PhD (Organic Chemistry) degrees from the University of Chicago. He pursued residency/fellowship training in Dermatology and Genetics at Washington University in St. Louis, and joined its faculty in 1993. Since 2002, he is the Henry Bachrach Distinguished Professor at UCSF. In 2017, he also assumed the role of Distinguished Research Fellow and Director of the Institute of Biomedical Sciences at the Academia Sinica in Taiwan.

Dr. Kwok’s research focuses on developing tools and strategies to study the human genome and the role of human variation in common diseases. In July 2018, he launched the Taiwan Precision Medicine Initiative, a 3-year pilot study to obtain genetic profiles of 1 million people for clinical use.

Dr. Kwok is an Academician of the Academia Sinica and the recipient of the 2017 Distinguished Service Award from the University of Chicago Pritzker School of Medicine.

Jeong-Sun Seo, Ph.D.

Seoul National University, South Korea







Symposium 8 - Population / Evolutionary Genetics

Charles Rotimi, Ph.D.

NIH, US

Talk title: "History of the complex architecture of African genomes in health and disease"

Dr. Rotimi received his undergraduate education in biochemistry from the University of Benin in Nigeria before immigrating to the United States for further studies. He started his education in the United States at the University of Mississippi, where he obtained a master's degree in health care administration. He obtained a second master's degree and a doctorate in epidemiology from the University of Alabama at Birmingham School of Public Health. Prior to coming to the NIH, Dr. Rotimi was the director of the National Human Genome Center at Howard University.

Dr. Rotimi came to the NIH in 2008 to found the trans-institute Center for Research on Genomics and Global Health, with the mission of advancing research into the role of culture, lifestyle and genomics in disease etiology, health disparities, and variable drug response. His lab develops genetic epidemiology models and conducts epidemiologic studies that explore the patterns and determinants of common complex diseases in human populations with particular emphasis on populations of the African Diaspora. His team published the first genome-wide scan for hypertension and blood pressure in African Americans and for type-2 diabetes in West Africans. His lab contributes to the global understanding of human genetic variation by actively participating in the development of international genomic resources including the HapMap, the 1000 Genome and the African Genome Variation Project. He is on the Executive and Scientific Committee for the International Federation of Human Genetics Societies and was recently elected to the Human Genome Organization (HUGO) Council. He is the founding and past president of the African Society of Human Genetics (AfSHG).

He successfully led the establishment of the Human Heredity and Health in Africa (H3Africa) initiative with $76 million commitment from the NIH and Wellcome Trust. H3Africa will create and support network of labs that will conduct leading-edge research into the genetic and environmental determinants of diseases in Africans. He is on the editorial board of Public Health Genomics, Genome Medicine, Clinical Genetics and Journal of Applied and Translational Genomics. He is on the Coriell Personalized Medicine Collaborative Board. He was recently awarded an honorary professorship at the prestigious University of Cape Town, South Africa. He became the Chief of the Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch in 2014.

Jian Jun Liu, Ph.D.

Genome Institute of Singapore, Singapore

Talk title: "Large-scale whole-genome sequencing of three diverse Asian populations in Singapore"

The main research interest of Prof Jianjun Liu’s lab is to understand the genetic basis of human disease inheritance and susceptibility. Mainly focusing on complex diseases, his lab pursues collaborative research to discover genetic variants that influence disease susceptibility, progression and treatment outcome by employing both candidate gene-based and genome-wide association analyses. Largely working on Asian populations, his laboratory researches on diverse disease phenotypes, including cancers, autoimmune and inflammatory diseases, neurological and psychiatric disorders, metabolic and cardiovascular diseases, and infectious diseases, which have led to the discovery of many novel susceptibility genes for human complex diseases. Prof Liu’s research also covers pharmacogenomics, particularly the discovery of biomarkers for adverse drug reactions (ADRs) in Asian populations. Recently, Prof Liu has expanded his research to population genomics, for example the SG10K project where 10,000 Singaporeans are being subjected to whole genome sequencing (WGS) analysis. Such population genomic researches are not only driving various precision medicine programs around the world to explore the application of large-scale genomic data in improving clinical and health services, but also facilitating the understanding of genetic structure of modern human populations as well as the extent and distribution of disease predisposing genetic variation in current populations as the result of a long and complicated evolutionary, migratory, and demographic history of human species.

April 26th, 2019
Symposium 9 – Single Cell Biology – The Cell Atlases

Cai Long, Ph.D.

California Institute of Technology, US

Long Cai is a Professor of Biology and Biological Engineering at Caltech. His lab pioneered the field of spatial genomics by developing a method that allows the simultaneous imaging of over 10,000 genes in single cells within their native spatial context. This technology has opened a new way to directly visualize the genome in situ with microscopy, with many applications in neuroscience, stem cell biology, developmental biology and precision medicine. For this work, Dr. Cai has received the NIH New Innovator Award, Transformative Award, Paul G. Allen Frontiers Foundation Distinguished Investigator Award. Dr. Cai received his AB/AM in Physics and Chemistry at Harvard College, under the supervision of Dudley Herschbach, and his PhD in Chemistry at Harvard with Sunney Xie. He trained as a Beckman Institute Postdoctoral Fellow with Michael Elowitz at Caltech.

Efrat Shema, Ph.D.

Weizmann Institute of Science, Israel

Talk title: "Revealing the epigenetic regulatory network with single-molecule precision"

My interest in chromatin biology started during my PhD in Prof. Moshe Oren’s lab at the Weizmann Institute, where I studied the roles of RNF20, a chromatin modifier, in transcription regulation and cancer. I identified RNF20 as a novel tumor suppressor in vitro and in vivo, and further elucidated its mode of action by selective regulation of gene expression. My graduate research resulted in three high profile first author publications, as well as additional publications from fruitful collaborations with labs in Israel (Yossi Shiloh, Yossi Yarden, Ashraf Brik) and abroad (Steven Johnsen, Wolfgang Fischle, Robert Roeder, Shelley Berger).

During my PhD, I was often frustrated with the limited technologies available for studying chromatin, which impede systematic and mechanistic understanding of the combinatorial action of epigenetic marks in specifying distinct biological processes. I, therefore, dedicated my postdoctoral studies in the lab of Dr. Bradley Bernstein at Massachusetts General Hospital and Harvard Medical School to develop a novel technology, based on singlemolecule imaging, for exploring the histone code. My studies yielded a number of notable biological advances, such as the identification of higher-order combinations of cooperating or opposing histone modifications whose prevalence varies with developmental potency.

In my new laboratory at the Weizmann Institute of Science, my research passion is to understand the complex network of epigenetic marks underlying chromatin behaviour and how these marks inter-relate and function in specifying distinct cell types. We strive to gain an unprecedented systematic view of the regulatory network that controls genome function, from combinatorial TF binding to the co-occurrence of epigenetic modifications and the inter-relations between these modes of regulation. I also seek to understand aberrant chromatin regulation in cancer and, in this context, how we can harness single-molecule technologies for clinical applications.

Roser Vento, Ph.D.

Wellcome Sanger Institute, UK

Talk title: "Mapping the female reproductive tissue one cell at a time"

Roser Vento-Tormo is an EMBO/HFSP postdoctoral fellow in Sarah Teichmann lab at the Sanger Institute, Cambridge (UK). Roser is interested in using single-cell transcriptomics to study cell-cell communication. Her work now focuses on mapping the female reproductive tissue, and studying maternal-fetal communication during pregnancy using single-cell transcriptomics.

Before coming to Cambridge, Roser Vento-Tormo did her PhD in University of Barcelona, studying the epigenetic regulation of the innate immune response. Roser earned a bachelor in biotechnology and a master in biomedical biotechnology in the Polytechnic University of Valencia.

Symposium 10 – Consanguinity / Rare Genetics & Carrier Screening

Fowzan Alkuraya, M.D.

King Faisal Specialist Hospital and Research Center, Saudi Arabia

Talk title: "First there was the autozygome, and the story continues"

He graduated with first class honors and was the valedictorian of his class from the College of Medicine at King Saud University, Riyadh, Saudi Arabia. Dr Alkuraya completed his residency in pediatrics at Georgetown University Hospital, Washington DC, USA. He then did two fellowships in clinical genetics and molecular genetics at Harvard Medical School. He finished a postdoctoral research fellowship in the area of developmental genetics in the lab of Professor Richard Maas, also at Harvard Medical School.

Dr Alkuraya returned to Saudi Arabia in 2007 to establish the developmental genetics lab, which he still directs. He is an authority in the area of Mendelian genetics with more than 312 published manuscripts that describe his lab’s discovery of more than 200 novel disease genes in humans.

Sekar Kathiresan, M.D.

Broad Institute, US

I lead a human genetics research laboratory and our scientific observations have advanced understanding of the genetic basis for myocardial infarction (MI) and blood lipoproteins, led to new therapeutic targets, and defined DNA biomarkers to stratify patients at risk for MI. I have focused on: (1) gene discovery; (2) defining the mechanisms by which newly identified genes impact phenotype; and (3) using these insights to improve preventive cardiac care. In tandem with my research, I see patients in the MGH Cardiovascular Genetics Program with a focus on primary prevention of MI in individuals with a strong family history.