Dr. Lee is responsible for the scientific direction and coordination of The Jackson Laboratory (JAX) for Genomic Medicine. Dr. Lee joined JAX Genomic Medicine from Harvard Medical School and Brigham and Women’s Hospital. He is best known for his discovery that copy–number variation—a state in which cells have an abnormal number of DNA sections, sometimes associated with susceptibility or resistance to disease—is widespread and significant in the human genome. This discovery, and his subsequent research, has provided tools that clinicians use to help them make accurate diagnoses for hundreds of thousands of genetic tests every year on conditions such as autism, birth defects and cancer.

Throughout his career, Dr. Lee has received numerous accolades and awards for his research into the human genome, including an Award from the American Association for Cancer Research and the 2008 Ho-Am

Prize in Medicine. He is an elected fellow of the American Association for the Advancement of Science (AAAS), a 2014 Thompson Reuters Citation Laureate and is currently president of the Human Genome Organization (HUGO). In addition to his responsibilities at JAX Genomic Medicine, Dr. Lee is an adjunct professor at Xi’An Jiaotong University, Xi’An, China.

Dr. Frank V. Sutland Professor of Pediatric Genetics at McKusick-Nathans Department of Genetic Medicine (DGM)
Professor at Johns Hopkins Bloomberg School of Public Health
Clinical Director, OMIM

After completing medical school at Georgetown University, and residency in Pediatrics, an MPH from the Bloomberg School of Public Health, followed by fellowship in clinical and biochemical genetics at Johns Hopkins Hospital, Ada Hamosh, MD, MPH, joined the faculty of the McKusick-Nathans Department of Genetic Medicine (DGM)of the Johns Hopkins University in 1992. She became the Dr. Frank V. Sutland Chair of Pediatric Genetics there in 2007. Her lifelong interest is in genotype-phenotype correlations and the molecular basis of mendelian disorders, beginning with cystic fibrosis, but expanding to becoming Scientific Director of Online Mendelian Inheritance in Man (OMIM®) since 2002. She is clinical director of the IGM, and has brought a primary care model to genetics practice. In addition, over the past several years, she has developed PhenoDB, a web-based tool for the collection, storage and analysis of phenotypic information, as well as variant filtering and analysis developed for the NHGRI funded Centers for Mendelian Genomics, but with broad applicability to any clinical or research lab pursuing whole exome/genome sequencing technologies. Her dream is to integrate standardized family history, phenotyping and genomic data to enable point of care support to diagnose and manage genetic disease. In addition, she and colleagues have developed GeneMatcher, a tool to connect clinicians, researchers, and patients/families with an interest in the same gene.  Because of use from submitters from 100 countries, GeneMatcher has become the premier tool to enable novel disease gene identification.

Professor Regulation of Biotechnology and Patent Law
University of Buenos Aires – Argentina 

Fabiana is a law professor and expert in the social, ethical, and legal aspects of new technologies in life sciences. She holds a Ph.D. in law and social sciences of the University of Buenos Aires.

Over the last fifteen years, she has made significant contributions in the field of research ethics and the regulation of new biotechnologies.  She has led multidisciplinary bodies that conducted the creation of legal/ethics frameworks for new biotechnologies in Argentina. Since 2007, she has chaired the Advisory Commission in Cellular Therapies and Regenerative Medicine and since 2016, the Interministerial Commission in Advanced Therapies, which proposed the creation of a legal regulatory framework for Cellular therapies, Gene Therapy, and Tissue Engineering to the Argentine government and that is in force since 2018. Her work also extends to the field of biobanks. Since 2011 she chairs the Biobancs Commission, a body that drafted the Ethics- legal- technical guidelines for Biobanks, which was issued by the Ministry of Health of Argentina in 2020.

Fabiana is Vice Director of the Observatory in Life Sciences at the School of Law of the University of Buenos Aires and works in academic collaborations at national and international level in the field of genomics and health.  She is currently undertaking ambitious initiatives to materialize the right of access to the advances of science.  In 2014 she founded ACTYON Foundation, a Non-Governmental Organization devoted to promote research related to how improve the access to new technologies in the field of regenerative medicine, and the RED APTA, (Argentinean Network of Patients’ Associations for Advanced Therapies), a network aimed to provide cutting edge information to patient’s organizations, facilitate and improve the access to new treatments and medicines and act as patient advocacy.

Professor of Oncological Sciences, Genetics and Genomics and Dermatology
Mount Sinai, New York, USA

Anne Bowcock, Ph.D. is Professor of Oncological Sciences, Genetics and Genomics and Dermatology at Icahn School of Medicine at Mount Sinai in New York, USA, where she holds the Norman Orentreich, M.D. Chair in Dermatological Research. Prior to this she held the chair in cancer genomics at Imperial College London. She also had tenures as professor of Genetics and Medicine at Washington University in St. Louis and in the Depts. Of Pediatrics and Medicine, and in the McDermott Center of Human of Growth and Development at the University of Texas Southwestern Medical Center at Dallas.   She obtained her B.S. and PhD degrees from the departments of Genetics and Biochemistry at the University of the Witwatersrand, Johannesburg, South Africa, and conducted postdoctoral research in the department of Genetics at Stanford University.  She is actively involved in research and teaching has served on and chaired a number of NIH review committees. She is currently co-director of the Genetics and Genomics graduate program at the Icahn School of Medicine at Mount Sinai. At Washington University in St. Louis she co-founded the graduate program in Human and Statistical Genetics. She is an international expert on cancer genetics and complex diseases, particularly those of the skin and joints. She spearheaded the identification of BAP1 as a metastasis suppressor in uveal melanoma and continues to investigate this devastating cancer at the genetic, genomic and functional levels. She also identified CARD14 as a gene responsible for a Mendelian form of psoriasis and psoriatic arthritis.

Professor of Genetics
University of Leicester

Professor Anthony Brookes’s research interests include genome structure/variation in disease, with a big focus on knowledge management to bridge research and healthcare. Recent impact from such efforts include: the GA4GH standard ‘ADA-M’; GWAS Central; and ‘Café Variome’. Previously he revealed the ‘TUF’ phenomenon which prevents genomic DNA sequences from denaturing; collaborative discovered several disease genes (e.g., PSEN1 in Alzheimer’s Disease); invented the ‘DASH’ method for reading DNA sequences by dynamic hybridisation; and devised novel ‘Megaplex-PCR’ and hybridisation-enrichment technologies.

Tony co-founded the Human Variome Project and the Human Genome Variation Society (now Vice-President). He sits on the Diagnostic Committee of IRDiRC, several Task Teams in GA4GH, and a number of expert advisory groups. He has launched two bioscience SMEs, and participates in a range of EU, IMI, and national consortia projects.
Tony moved to Leicester in 2004, where he now serves as Director of the ‘NUCLEUS’ Genomics Services facility, Lead for the ‘BINERI’ biomedical informatics strategic network (spanning disciplines across UoL and and UHL), and Associate Director of the Midlands Substantive Site for the Health Data Research UK institute (HDR-UK)

MD FRCP FRCPE FRCPCH FRCOG FMedSci
Professor of Clinical Genetics / Chairman of Newcastle Hospitals
Newcastle University

Professor Sir John Burn obtained a first-class honours degree in human genetics and an MD with distinction from Newcastle University, where he has been Professor of Clinical Genetics since 1991. He was appointed as a consultant specialist in Newcastle in 1984 and led the regional NHS Genetics Service for 20 years.

He helped to create the Centre for Life, which houses an education, and science centre alongside the Institute of Genetic Medicine. He was chair of Newcastle based DNA device company QuantuMDx Ltd for 10 years. In 2020 he stepped back to vice chair. Other former roles include President of the European Society of Human Genetics (2006-2007), Chair of the British Society for Genetic Medicine (2011-2013), Lead Clinician, Northern Strategic Health Authority (2010-2014) and Non-executive Director NHS England (2014-2018)

He was knighted in 2010 and chosen as one of the first 20 ‘local heroes’ to have a brass plaque on Newcastle Quayside in 2014. He received the Living North award in 2015 for services to the North East 2000 – 2015. He is also Treasurer and co-Director of the international organisation, Global Variome, which seeks to share knowledge of genetic variation for clinical benefit. Sir John has been Chairman of Newcastle upon Tyne Hospitals NHS Foundation Trust since December 2017.

Born and educated in Italy he obtained his doctoral degree at the University of Trieste in 1989. From 1990 to 1995 he developed technologies for DNA extraction and DNA sequencing at Talent, a spin-off biotech.

He moved to Japan in 1995 at RIKEN as STA Fellow and became a tenured researcher in 1997. He developed technologies to capture full-length cDNAs based on cap-trapper, which became the fundamental technology for the FANTOMprojects. Further, technologies to analyze the transcriptome, he has developed also the CAGE method, allowing simultaneous measurement of gene expression and map of promoters and other regulatory regions. These technologies have been broadly used in the RIKEN FANTOM projects and allowed identifying non-coding RNAs as are the major output of the mammalian genome and providing comprehensive maps of the mammalian promoters and enhancers. The CAGE methods was further redeveloped for analysis of limited amount of tissues and single cells.

He was appointed in 2008 to Team Leader, Unit Leader and Deputy Project Director positions at the RIKEN Omics Science Center. From 2013, he was appointed as Director of the Division Genomics Technologies and a Deputy Director of the RIKEN Center for Life Science Technologies. From April 2018, he was appointed as Deputy Director of the RIKEN Center for Integrative Medical Sciences. From July 2020 he has taken the position of Head of the Genomics Research Centre of the Functional Genomics Programme at the Human Technopole in Milan, Italy.

Currently, he is focusing on investigating the functions of lncRNAs in the FANTOM6 project and Human Cell Atlas (HCA). Also, he has been exploring the mechanisms of SINEUPs, antisense lncRNAs which upregulate targeted protein translation.

He has published more than 370 papers and book chapters, edited books and is a member of editorial boards of various scientific journals.

Aetna/U.S. Healthcare Professor of Medical Genetics
Professor of Genetic Medicine
John Hopkins Medicine

Dr. Garry R. Cutting is the Aetna/U.S. Healthcare Professor of Medical Genetics, Pediatrics and Medicine in the McKusick-Nathans Department of Genetic Medicine of the Johns Hopkins University School of Medicine. He has been the Medical Director of the DNA Diagnostic Laboratory of Johns Hopkins Genomics since 1995. He directed the Medical Genetics Residency Program at Hopkins from 1995 to 2004 and Clinical Genetic Laboratory Training Program from 1995 to 2018. As Editor of the journal Human Mutation, Dr. Cutting oversees the review and publication of manuscripts reporting the mechanism, distribution and phenotype consequences of variation in our genomes. Dr. Cutting has been very active in the Human Variome Project, an international effort to document all variation in human DNA (Board of Directors (2016-present), Co-Chair of the Board (2018-present), Co-Chair of the International Scientific Advisory Committee (2015-present) and Chair of the Reporting of Sequence Variants Working Group (2018-present)).

Dr. Cutting’s primary research interests lie in the interpretation of DNA variation and their effect upon human phenotypes. Dr. Cutting’s lab focuses on the effect of common and rare variants in the CFTR gene that cause the single gene disorder cystic fibrosis (CF). His team operates the CFTR2 database, a resource composed of clinical and genetic data on almost 90,000 individuals with CF world-wide. His laboratory also studies the effect of clinically approved and novel modulators upon CFTR protein bearing disease-causing variants. Dr. Cutting’s laboratory is a leader in the identification and characterization of genetic modifiers of CF. His group is currently collaborating with teams at UNC and UW, Seattle to identify common and rare modifier variants of disease severity by whole genome sequencing. Dr. Cutting is the recipient of the Paul di Sant’Agnese Distinguished Scientific Achievement Award from the Cystic Fibrosis Foundation and a MERIT award from the National Institutes of Health. He has published more than 200 peer-reviewed articles and 50 reviews and book chapters. Dr. Cutting was elected to the Society of Pediatric Research (1992), the American Society of Clinical Investigation (1995) and the Association of American Physicians (2017).

Johan T. den Dunnen (PhD) was a professor Medical Genomics, working in the depts. of Human Genetics and Clinical Genetics at the Leiden University Medical Center (Leiden, Nederland). He is a trained biologist, specialized in molecular biology/molecular genetics, performing research in the area of genetic diseases. As initiator of the Leiden Genome Technology Center (LGTC) he focuses on the development and application of high-throughput genome technology in research and diagnosis of genetic disease. He started his career to work on Duchenne and Becker muscular dystrophy for which his group developed several diagnostic tests as well as invented the “exon skipping” technology for the treatment for DMD/BMD and other diseases. His current focus is on next generation sequencing and data analysis pipelines, especially exome/genome sequencing and RNA-expression profiling and gene variant databases (the LOVD platform): trying to make sense of a genome. He is active for several international organizations promoting standardized variant reporting (HGVS nomenclature to describe sequence variants) and data sharing. DNA diagnostics is based on sharing data on genes, variants and phenotypes.

Medical Oncologist
The University of Vermont Medical Center

Dr. Marc Greenblatt, MD is a Medical Oncology Specialist in Burlington, VT and has over 38 years of experience in the medical field. He graduated from Thomas Jefferson U, Medical College medical school in 1983. He is affiliated with medical facilities University of Vermont Health Network – Central Vermont Medical Center and University of Vermont Medical Center.

Edison Liu, M.D., is the president and CEO of The Jackson Laboratory, an independent research institute focused on complex genetics and functional genomics with campuses in Maine, Connecticut, and California. Previously, he was the founding executive director of the Genome Institute of Singapore and the president of the Human Genome Organization (HUGO). He was also the scientific director of the National Cancer Institute’s Division of Clinical Sciences in Bethesda, Md., where he was in charge of the intramural clinical translational science programs. In his earlier career, Dr. Liu was a faculty member at the University of North Carolina at Chapel Hill, where he was the director of the UNC Lineberger Comprehensive Cancer Center’s Specialized Program of Research Excellence in Breast Cancer; the director of the Laboratory of Molecular Epidemiology at UNC’s School of Public Health; and the Chief of Medical Genetics. Dr. Liu is an international expert in cancer biology, systems genomics, human genetics, molecular epidemiology and translational medicine. Dr. Liu’s own scientific research has focused on the functional genomics of human cancers, particularly breast cancer, uncovering new oncogenes, and deciphering on a genomic scale the dynamics of gene regulation that modulate cancer biology. He has authored over 320 scientific papers and reviews and co-authored two books. He obtained his B.S. in chemistry and psychology, as well as his M.D., at Stanford University. He then received his residency and fellowship training at Washington University, St, Louis, and Stanford, and post-doctoral training in molecular oncology at the University of California at San Francisco.

Stanford W. Ascherman, MD, FACS, Professor in Genetics
Stanford Medicine

Michael Snyder is the Stanford Ascherman Professor and Chair of Genetics and the Director of the Center of Genomics and Personalized Medicine. Dr. Snyder received his Ph.D. training at the California Institute of Technology and carried out postdoctoral training at Stanford University. He is a leader in the field of functional genomics and proteomics, and one of the major participants of the ENCODE project. His laboratory study was the first to perform a large-scale functional genomics project in any organism, and has launched many technologies in genomics and proteomics. These including the development of proteome chips, high resolution tiling arrays for the entire human genome, methods for global mapping of transcription factor binding sites (ChIP-chip now replaced by ChIP-seq), paired end sequencing for mapping of structural variation in eukaryotes, de novo genome sequencing of genomes using high throughput technologies and RNA-Seq. These technologies have been used for characterizing genomes, proteomes and regulatory networks. Seminal findings from the Snyder laboratory include the discovery that much more of the human genome is transcribed and contains regulatory information than was previously appreciated, and a high diversity of transcription factor binding occurs both between and within species. He has also combined different state-of–the-art “omics” technologies to perform the first longitudinal detailed integrative personal omics profile (iPOP) of person and used this to assess disease risk and monitor disease states for personalized medicine. He is a cofounder of several biotechnology companies, including Personalis, Qbio, January AI, Mirvie, Protos, Filtricine.

MB, ChB, M.D, FRACP, FACD, FAICD

Inaugural Chair of Adult Clinical Genetics at the University of Melbourne
Director of Genomic Medicine at the Royal Melbourne Hospital

Professor Ingrid Winship AO is the inaugural Chair of Adult Clinical Genetics at the University of Melbourne and Director of Genomic Medicine at the Royal Melbourne Hospital. She recently completed 12 years as Executive Director, Research, at Melbourne Health.

Professor Winship completed her medical training and postgraduate training in genetics and dermatology at the University of Cape Town, followed by a combined academic and clinical position there. In 1994, she joined the University of Auckland where she later became Professor of Clinical Genetics, Associate Dean Research, and Clinical Director of the Northern Regional Genetic Service.

Professor Winship has a wide range of clinical and research interests in inherited disorders, particularly those with adult onset, including familial cancer, and where foreknowledge of genotype may influence clinical or lifestyle measures to create positive patient outcomes. She has experience in gene discovery and in the translation of discovery into clinical practice. She has also highlighted the societal implications with research into the ethical, legal, cultural and psychosocial domains of genetic technology. Professor Winship is currently a member of the Boards of Directors for the Australian Genome Research facility and Geneseq. She is Chair of the Australian Health Ethics Committee and a member of the NHMRC Council.

jennifer.lee@hugo-international.org

 

amy@variome.org