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.

 

 

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.

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.

 

Dean, Department of Human Molecular Genetics & Biochemistry, Faculty of Medicine
Tel Aviv University, Israel 

 

Karen B. Avraham is an Israeli-American human geneticist. She holds the Drs Sarah and Felix Dumont Chair for Research of Hearing Disorders.

As a full professor at Tel Aviv University, and the current Dean of the Sackler Faculty of Medicine, Avraham has a laboratory in the Department of Human Molecular Genetics and Biochemistry. Currently resides as the President of the Israel Society for Auditory Research (ISAR), Avraham held presidency with the Federation of Israel Societies for Experimental Biology (FISEB/ILANIT, 2017) as well a former board membership of the I-CORE: Gene Regulation in Complex Human Disease. Avraham is a council member of the European Molecular Biology Organization (EMBO, 2017), chair of the Scientific Committee of the Fondation Pour L’Audition in France, an elected member of the International Collegium Oto-Rhino-Laryngologicum Amicitiae Sacrum (CORLAS), and past president of the Association for Research in Otolaryngology (ARO) and the Genetic Society of Israel (GSI). She is an editor of Mammalian Genome (2017), section editor of the European Journal of Human Genetics (2017), associate editor of Human Genomics, and on the advisory editorial board of EMBO Molecular Medicine.

Avraham’s research has centered on the discovery of disease genes, focusing on hereditary hearing loss. Her team studies the molecular basis of hearing loss using genetic, developmental, biochemical, cellular and bioinformatic tools. She leads the effort in exome sequencing for the discovery of disease genes to identify mutations that are relevant for the hearing-impaired population. Her group has demonstrated that microRNAs are essential for development and function of inner ear hair cells in vertebrates and has characterized the first long non-coding RNAs (lncRNAs) and methylation in the auditory system. Avraham was the HGM2022 Chair of the Local Organizing Committee.

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.

Clinical Director, NSW Health Pathology, Australia

 

Dr Michael Buckley is a Genetic Pathologist with Fellowships in Genetics from the Human Genetics Society of Australia, the Royal College of Pathologists of Australasia and the Royal College of Pathologists in the United Kingdom. He is the supervising pathologist of Genome.One Pty Ltd at the Kinghorn Centre for Clinical Genomics.

Dr Buckley’s research interest is principally in disease gene identification in paediatric congenital anomalies; with major publications concerning the identification of the SP110 gene as the cause of a form of severe combined immunodeficiency, the SCL29A3 gene in pigmented hypertrichosis with insulin dependent diabetes mellitus, and the FREM1 gene in metopic craniosynostosis.

Between 2008 and 2011 he was the recipient of a Marie Curie International Incoming Fellowship for a project directed at the implementation of massively parallel sequencing for disease gene identification in diagnostics and in research, a project which is ongoing with the development of a Centre for Medical Genomics within the SEALS Genetic Laboratory. Current research funding includes support for Centre of Research Excellence for Neurocognitive Disorders. Dr Buckley is actively involved in specialist training having held positions as Registrar of the RCPA Board of Censors, RCPA Chief Examiner in Genetics, HGSA Chief Examiner in Molecular Genetics, and is currently the vice-president of the Human Genetics Society of Australasia (HGSA).

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.

Professor of Medicine

Division Director, Division of Genetics, Department of Medicine

Diversity Liaison, Vanderbilt University Medical Center

 

Nancy J. Cox, PhD, is Professor of Medicine and Director of the Division of Genetic Medicine within the Department of Medicine at Vanderbilt University Medical Center.

 

Dr. Cox completed her PhD at Yale University and conducted postdoctoral research at Washington University and the University of Pennsylvania. She joined the faculty at the University of Chicago, where she spent her academic faculty career until she was recruited to Vanderbilt in 2015 to lead the new Vanderbilt Genetics Institute (VGI).

 

As Founding Director of the VGI, Dr. Cox is focused on recruiting world-class genetics and genomics scientists to the Institute, with the primary goal of making Vanderbilt’s DNA databank, BioVU, into an unparalleled engine for discovery and translation in human genetics and genomics. She initiated the first large-scale genetic/genomic consortium in type 2 diabetes, and she has active research and advisory roles in many of the top genomic consortia that provide the foundation for current studies in human genetics and genomics.

 

Dr. Cox has an active research program in data integration, particularly in the integration of functional genomic information to aid in discovery and interpretation of associations of genome variation with common disease. Her lab was the first to show that most of the common variant associations to common human diseases and complex human traits appear to be regulatory in function.

 

Dr. Cox has more than 280 peer-reviewed publications and was a co-winner of the 2008 American Association of Cancer Research Landon Award and winner of the 2010 Leadership Award in Genetic Epidemiology. She was named a Pritzker Scholar in 2012 and a Distinguished Faculty from the Biological Sciences Division at the University of Chicago in 2013. She is former editor of Genetic Epidemiology (2006-2011), a former member of the Board of Directors for the American Society of Human Genetics, and is Member-at-Large for Biological Sciences in the American Association for the Advancement of Science.

 

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.

 

Distinguished Professor
National Institute of Biomedical Genomics (NIBMG), India

 

Partha Pratim Majumder obtained his BStat (Hons), MStat and PhD degrees from the Indian Statistical Institute, Kolkata. He did his post-doctoral work at the Center for Demographic & Population Genetics, University of Texas Health Science Centre, Houston. He returned to India and joined the faculty of the Indian Statistical Institute (1983). He was a Visiting Professor in the Department of Biostatistics & Human Genetics, University of Pittsburgh (1987-89).

Professor Majumder has made significant contributions to human genetics and evolution using statistical, molecular genetics and anthropological methods. He has devised innovative paradigms and statistical methods for solving biological problems related to modes of inheritance of complex human traits and mapping genes underlying such traits. He applied these methods to data on various common disorders and their quantitative precursor states, that has resulted in a clear understanding of the genetic bases of such disorders. He was one of the early human geneticists to recognize the importance of studying genetic structures of ethnic populations using molecular genetic tools to discover genes conferring susceptibilities to various common diseases. This viewpoint has been widely accepted and, in fact, the study of common diseases has moved to villages of population isolates. His work on genetic diversity of ethnic Indian populations has resulted in a clear reconstruction of the processes of peopling of the Indian subcontinent, which have had major impacts on the design of studies for mapping disease genes.

Majumder is a founding member of the International Genetic Epidemiology Society and was the Founding Chair of its ethical, legal and social issues committee. He has served on committees of the UNESCO for drafting guidelines and declarations pertaining to the human genome and human genetics. Majumder has immensely contributed to capacity-building in human and statistical genetics in India by sustained organization of workshops, summer and winter schools. He has served on the Executive Committee of the International Human Genome Diversity Programme, and on many national committees. He is a Member of the Human Genome Organization and Member, INSA Council (2006-08).

Partha Majumder is a recipient of Ranbaxy Research Award (2000), New Millennium Science Medal (2000), Shri Om Prakash Bhasin Award (2001) and GD Birla Award for Scientific Research (2002). He is also a Fellow of the Indian Academy of Sciences, Bangalore and the National Academy of Sciences (India), Allahabad.

 

Director
Trans-National Institutes of Health (NIH) center for research in genomics and global health, US

 

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.

David and Lyn Silfen University Professor
Departments of Genetics and Biology
Perelman School of Medicine
University of Pennsylvania, US

Sarah Tishkoff is the David and Lyn Silfen University Professor in Genetics and Biology at the University of Pennsylvania, holding appointments in the School of Medicine and the School of Arts and Sciences. She is also Director of the Penn Center for Global Genomics and Health Equity.

Dr. Tishkoff studies genomic and phenotypic variation in ethnically diverse Africans. Her research combines field work, laboratory research, and computational methods to examine African population history and how genetic variation can affect a wide range of traits – for example, why humans have different susceptibility to disease, how they metabolize drugs, and how they adapt through evolution.

Dr. Tishkoff is a member of the National Academy of Sciences and a recipient of an NIH Pioneer Award, a David and Lucile Packard Career Award, a Burroughs/Wellcome Fund Career Award, an ASHG Curt Stern award, and a Penn Integrates Knowledge (PIK) endowed chair. She is a member of the Scientific Advisory Panel for the Packard Fellowships for Science and Engineering and the Board of Global Health at the National Academy of Sciences and is on the editorial boards at PLOS Genetics, Genome Research; G3 (Genes, Genomes, and Genetics);Cell.

Her research is supported by grants from the National Institutes of Health, the National Science Foundation, the Chan Zuckerberg Institute, and the American Diabetes Association.

jennifer.lee@hugo-international.org

 

gvinfo@variome.org