Dr. Detlev Arendt, has been an ERC advanced investigator since 2012. He has served as a group leader and senior scientist at EMBL since 2007. In 2002 Dr. Arendt became a team leader. He received his PhD in 1999 from Albert-Ludwigs-Universität, Freiburg, Germany.
Dr. Jeffrey Barrett has rejoined the Wellcome Sanger Institute to help build the Sanger Institute’s comprehensive Covid-19 genomic surveillance program in the UK. Previously Jeff was Director of Open Targets, an open innovation partnership to use cutting-edge genomic results to improve the early stages of drug development. His research team at Sanger analyzed thousands of genomes to better understand the biology of a wide range of complex disorders.
I became interested in human disease genetics during a research project in Mark Daly’s lab at the Whitehead Institute while I was a student at MIT. After graduating I joined Mark’s group full-time where I developed software tools, including the widely used Haploview program. As I became interested in pursuing genetics as a career, I moved to Lon Cardon’s group in Oxford for a D. Phil in Statistics. I helped design the first generation of genome-wide association studies (GWAS), and was a lead analyst for the Wellcome Trust Case Control Consortium. Contrary to my assumption that I’d move back to the States, I couldn’t turn down a post-doc opportunity in David Clayton’s group in Cambridge, where I worked on meta-analyses and follow-up of GWAS in both inflammatory bowel disease and type 1 diabetes, each of which resulted in the identification of twenty novel associations.
I moved to the Sanger Institute in November 2008 to start a team in medical genomics (and committing myself to the UK for the long haul!). My team has used GWAS as a tool to explore the overlapping genetic architecture of diseases of inflammation, immunity, and infection including celiac disease, inflammatory bowel disease, multiple sclerosis, tuberculosis and malaria. More recently, the team has also analyzed large scale exome-sequencing datasets to probe the contribution of rare genetic variation in developmental disorders, autism and schizophrenia.
My leadership roles have included editorships at Bioinformatics and Human Molecular Genetics, the management committees of the WTCCC3, UK10K and DDD studies, and co-chairmanship of the International IBD Genetics Consortium.
Dr. Trevor Bedford, Fred Hutch, uses powerful computers and complex statistical methods to study the rapid spread and evolution of viruses, including those that cause COVID-19, influenza, Ebola and Zika. Data gathered from these processes help researchers develop successful strategies for monitoring and controlling infectious diseases. His visual representations of viral family trees are used to show how the fate of dangerous outbreaks is often determined by the genetics of the infectious agent, human behavior and geography. Dr. Bedford has applied these techniques to document the worldwide spread of COVID-19 and of seasonal flu viruses. He is developing models to predict which strains of influenza are likely to be most challenging to humans — data that help inform the crucial early decisions about which strains to include in annual flu shots. He specializes in tracking the evolutionary changes of viruses such as HIV and influenza that use RNA, rather than DNA, to carry their genetic information. RNA viruses are much more prone to rapid mutation, which makes many of them particularly nimble at escaping the human immune system and difficult to stop with vaccines. He co-developed an open-source platform called Nextstrain that provides a continually updated view of publicly available viral genomic data alongside powerful analytic and visualization tools. He is a leading advocate for the immediate release of research analyzing viral evolution during epidemics, fresh information that can make a lifesaving difference.
Dr. Jef Boeke is the Founding Director of the Institute for Systems Genetics at NYU Langone Medical Center. He is known for work on mechanistic and genomic aspects of retrotransposition, and develops technologies in genetics, genomics and synthetic biology. Research Interests: cancer, computational biology, genome integrity, genomics, microbiology, pharmacology, stem cell biology, systems biology, yeast, retrotransposon
Dr. Boeke elucidated one of the major forms of DNA movement (transposition) in yeast cells, in which Ty1 elements move via reverse transcription of RNA. He coined the term retrotransposition to describe the process, which is common in virtually all eukaryotic genomes. His genetic and biochemical studies helped elucidate intricate molecular mechanisms involved in retrotransposition in yeasts, mammalian cells and mice. The Boeke laboratory has also constructed highly active synthetic retrotransposons as a probe of retrotransposition in cells and mice. Retrotransposition formed about half of all human DNA and has been a major force in genome evolution. Another current interest is exploration of the frequency and impact of ongoing retrotransposition in the human germ line, somatic cells, and cancer. In the area of Synthetic Biology, Jef Boeke is using yeast as a platform for exploring the construction of fully synthetic chromosomes for practical and theoretical studies. He is leading an international team to synthesize an engineered version of the yeast genome called Sc2.0, the first synthetic eukaryotic genome.
Born in 1954 in Albany NY, he grew up in New Jersey and received a Bachelor’s degree in Biochemistry from Bowdoin College in 1972. Following this he spent a year as a Watson Fellow, collecting plants in the Andes. He obtained a PhD in Molecular Biology from the Rockefeller University in 1982, where he worked on the genetics of filamentous phage assembly with Peter Model and Norton Zinder. He did his postdoctoral work at MIT/Whitehead Institute on yeast/transposon genetics with Gerald Fink. He served on the faculty of the Department of Molecular Biology & Genetics at the Johns Hopkins University School of Medicine from 1986-2014, where he also founded the High Throughput Biology Center.
Dr. Catherine Brownstein is an Instructor in Pediatrics at Harvard Medical School and a Research Associate in the Division of Genetics and Genomics at Boston Children’s Hospital. As the Scientific Director for the Manton Center for Orphan Disease Research Gene Discovery Core, Dr. Brownstein has been instrumental in the elucidation of several new disease genes for conditions such as intellectual disability, nemaline myopathy, very early onset psychosis, SIDS, and hypophosphatemic rickets. Her current work focuses on advancing the fields of next generation sequencing and analysis. As part of the Innovation and Digital Health Accelerator at Boston Children’s Hospital, she is a conduit between academics and industry, producing innovative technology approaches and partnerships.
Mark Daly is the founding Chief of the Analytic and Translational Genetics Unit (ATGU) at Massachusetts General Hospital and an assistant professor at the Harvard Medical School. His research has historically focused on the development and application of statistical methods for the discovery and interpretation of genetic variation responsible for complex human disease and with the creation of the ATGU, he and other core faculty are focused on the interpretation of genome sequence and the use of genome information in clinical settings. Mark is also an Institute Member and Co-Director of the Program in Medical and Population Genetics at the Broad Institute, where he leads many large scale genome sequencing studies in autism and inflammatory bowel disease.
While developing computational and statistical methods that can be broadly applied, his group has several primary medical genetics research foci. He has extensive research program in neuropsychiatric genetics – particularly in autism, schizophrenia and ADHD – and has led large-scale GWAS and exome sequencing efforts in this area. His lab, along with Dr. Ben Neale’s, serves as an analytic hub for the Psychiatric GWAS Consortium, an international consortium leading the largest collaborative GWAS studies in 5 major psychiatric disorders. He also has a longstanding effort in the mapping of genes for Crohn’s disease and ulcerative colitis where he helped found and lead an international effort that has identified more than 150 genetic risk factors and, in collaboration with Dr. Ramnik Xavier’s group, pursues the functional interpretation and clinical ramifications of these continued gene discovery efforts. Along with Dr. Rehm, he is co-PI of the gnomAD project and committed to ensuring the output of all ATGU genomic research is maximally accessible and useful to the clinical and research communities.
Mark was appointed Director of the Institute of Molecular Medicine Finland (FIMM) at the University of Helsinki in February of 2018, and now divides his time between Helsinki and Boston though he maintains his primary lab and affiliations in Boston. FIMM is a translational research institute with a focus on cancer, digital diagnostics, genetics and epidemiology is the home of landmark efforts such as the FinnGen Project.
Mark received his B.S. in physics from MIT and his Ph.D. in human genetics from Leiden University, Netherlands.
Josh Denny, M.D., M.S., is the Chief Executive Officer of the National Institutes of Health’s All of Us Research Program. He has been involved in All of Us from its inception, first as a member of the Advisory Committee to the (NIH) Director Precision Medicine Initiative Working Group, which developed the program’s initial scientific blueprint. He led the program’s initial prototyping project and served as the principal investigator for the All of Us Data and Research Center.
As a physician scientist, Josh is deeply committed to improving patient care through the advancement of precision medicine. Before joining the NIH, Josh was a Professor of Biomedical Informatics and Medicine, Director of the Center for Precision Medicine, and Vice President for Personalized Medicine at Vanderbilt University Medical Center. In his roles at VUMC, he was both a practicing internist and a researcher. His research interests include use of electronic health records (EHRs) and genomics to better understand disease and drug response. He also led efforts implementing precision medicine to improve patient outcomes. Josh was a leader in the development of phenome‐wide association studies (PheWAS) and phenotype risk scores.
He served as PI for Vanderbilt sites in the Electronic Medical Records and Genomics (eMERGE) Network, Pharmacogenomics Research Network (PGRN), and the Implementing Genomics Into Practice (IGNITE) Network. He is an elected member of the National Academy of Medicine, the American Society for Clinical Investigation, and the American College of Medical Informatics.
Dr. John Greally is a tenured Professor in the Departments of Genetics (Chief, Division of Genomics), Medicine (Division of Hematology) and Pediatrics (Division of Genetics) at the Albert Einstein College of Medicine, where he has been on faculty since 2001. He was also the first Affiliate Member appointed at the New York Genome Center.
A native of Galway, Ireland, Dr. Greally received his honours degree in Medicine from the National University of Ireland in Galway in 1988, subsequently moving to the Children’s Hospital of Pittsburgh for Pediatrics residency and Yale University in 1993 for subspecialty training in Clinical Genetics.
He received his higher degrees in medicine (D.Med.) and science (Ph.D.) degrees from the National University of Ireland, Galway. He was awarded his Fellowship of the American College of Medical Genetics (FACMG) in 2013.
He is the Founding Director of the Center for Epigenomics at Einstein, where he holds the endowed position of Faculty Scholar for Epigenomics.
He has been the recipient of numerous scholarships and awards, most recently the 2015-2016 Litchfield lectureship with title from the University of Oxford.
He has over 160 publications and has released several software packages developed by his group as Bioconductor resources. He is the recipient of numerous National Institutes of Health (NIH) and other grant awards.
He serves on scientific advisory boards for the Singapore Institute for Clinical Sciences (SICS) and the NIH (NIEHS) TaRGET II Consortium Steering Committee, and has been a member of an Údarás na hOllscoile (the Governing Body) of the National University of Ireland, Galway since 2013. He chaired the NIH study section Genetics of Health and Disease (GHD) from 2012-2014, and is a Section Editor (Epigenetics) for PLOS Genetics and on the editorial board of Epigenetics & Chromatin.
He is an active clinician, with hospital privileges at Montefiore Medical Center in the Bronx, where he is an attending physician seeing patients referred for genetic problems. He is part of the NIH’s CSER Consortium, developing software tools to enhance patient diagnostic success, clinical decision support and reverse phenotyping,
His basic science research is focused on the use of genomics techniques to understand human disease pathogenesis, described as somatic cellular genomics, specifically looking at cellular epigenetic models of reprogramming and cell subtype compositional changes. He is currently writing a textbook on Epigenetics: History, Mechanism and Disease.
Dr. Cheryl Hayashi is a curator in the American Museum of Natural History’s Division of Invertebrate Zoology, a professor in the Richard Gilder Graduate School, the Leon Hess Director of Comparative Biology Research, and the Director of the Sackler Institute for Comparative Genomics. Dr. Hayashi is one of the world’s leading experts on spider silks. Dr. Hayashi studies the characteristics of spider silks, as well as the relationship between spider genomes and their ability to make silks. Hayashi also investigates silks from other arthropods, non-fibrous proteins such as glues, and comparative analysis of spider silk biomechanics. Her findings, already advancing our understanding of the evolution of spiders and their silks, also have the potential to influence the development of biomimetic material for a variety of applications, from tissue scaffolds and medical devices to lightweight vehicle parts. Dr. Hayashi earned her B.S. and Ph.D. degrees from Yale University. She was a postdoctoral fellow at the University of Wyoming and was on the faculty at the University of California, Riverside prior to joining the American Museum of Natural History.
Photo Credit: © AMNH/R. Mickens.
Edward (Eddie) Holmes
Dr. Eddie Holmes is an ARC Australian Laureate Fellow at the Charles Perkins Centre, University of Sydney, with concurrent Professorial appointments in the School of Life & Environmental Sciences and Sydney Medical School. He will start an ARC Australian Laureate Fellowship in 2018. Prior to joining the University of Sydney, Dr. Holmes was the Verne M. Willaman Chair in the Life Sciences at The Pennsylvania State University, USA. Dr. Holmes received his undergraduate degree from the University of London (1986) and his Ph.D. from the University of Cambridge (1990). Following that, he performed postdoctoral research at the Universities of California (Davis), Edinburgh and Oxford. Between 1993-2004 he held various positions at the University of Oxford, including University Lecturer in Evolutionary Biology and Fellow of New College. His research focuses on the emergence, evolution and spread of RNA viruses, with special emphasis on revealing the genetic and epidemiological processes that underpin viral emergence, the molecular epidemiology of important human and animal pathogens, understanding the nature of global virus diversity, and the major mechanisms of virus evolution. In 2003 he was awarded the Scientific Medal by the Zoological Society of London. In 2008 he became a Kavli Fellow of the National Academy of Sciences, USA, and in 2010 he won the Faculty Scholars Medal in the Life and Health Sciences at Penn State. He was elected a Fellow of the Australian Academy of Science (FAA) in 2015 and a Fellow of the Royal Society (FRS) in 2017.
Dr. Eimear Kenny, PhD, is Founding Director of the Institute for Genomic Health, and Associate Professor of Medicine and Genetics at Mount Sinai. She is a statistical and population geneticist. She leads a multidisciplinary team of geneticists, computer scientists, clinicians, and other medical professionals, working on problems at the interface of genetic ancestry, very large-scale genomics and medicine. Her goal is to accelerate the integration of genomics into clinical care, particularly in diverse and underserved populations. She is Principal Investigator in 6 large international programs focused on genomic research, medicine and health, and is in the top 20 NIH-funded genomics researchers in the US. She is a scientific advisor to many genomic and genomic medicine initiatives in government, non-profit and industry arenas. She has published over 100 papers in leading journals like Science, Nature, Nature Genetics, NEJM, with over 14,000 citations, and her work has been featured by many media outlets including the New York Times.
She has a BA in Biochemistry from Trinity College Dublin, a PhD in computational genomics from Rockefeller University, and did her postdoctoral training in population genetics at Stanford University.
Jin Billy Li
Dr. Li is Assistant Professor of Genetics at Stanford University. He received his undergraduate degree at Tsinghua University in Beijing China and graduate degree in Genetics from Washington University in St. Louis. His postdoctoral training with Professor George Church at Harvard Medical School focused on developing genomic tools coupled with next generation sequencing and applying them to identify genomic and transcriptomic variations. Since he started his laboratory at Stanford in 2010, he has focused on RNA editing studies. His laboratory has developed computational tools to accurately identify RNA editing sites using deep sequencing data, as well as new technologies to efficiently profile RNA editing levels. Built on these methodological advances, his laboratory is working towards understanding the regulation and functions of RNA editing.
Dr. Samantha Morris, Ph.D., is an Assistant Professor of Genetics and Developmental Biology at Washington University in St. Louis. Her laboratory studies the mechanisms of cell reprogramming, focusing on how pioneer transcription factors drive gene expression, epigenetic, and functional changes in cell identity. To enable these studies, her group develops novel, open-source single-cell experimental and computational approaches to longitudinally record lineage and gene regulation during directed reprogramming. With her team, Dr. Morris aims to engineer clinically relevant cell populations, translating new insights in cell fate specification into better models of disease and development. With clinical collaborators, her laboratory uses their genomic technologies to dissect mechanisms of pediatric gastrointestinal disease, such as Short Gut Syndrome and Hirschsprung’s Disease, with a long-term goal of developing novel regenerative therapies.
Dr. Morris trained as a Developmental Biologist at the University of Cambridge. In Magdalena Zernicka-Goetz’s group, she investigated mechanisms of cell fate decision-making in the earliest stages of development. She then joined the laboratory of George Daley at Harvard Medical School, where she focused on the analysis of gene regulatory networks to dissect and engineer cell identity. In 2015, she established her independent research group. In 2017, Dr. Morris was named a Vallee Foundation Scholar. In 2019, she was awarded the St. Louis Academy of Science Innovation Award and was named an Allen Distinguished Investigator, and in 2020 a Sloan Research Fellow. She sits on the Board of Directors of the Society for Developmental Biology, serves on the editorial boards of Development, Cell Systems, and Developmental Cell, and is an Associate Editor at Development.
Dr. Natalie Prystajecky is the program head for the Environmental Microbiology program at the BCCDC Public Health Laboratory. She is also a clinical assistant professor in the Department of Pathology & Laboratory Medicine at UBC.
Dr. Prystajecky’s research interests are public health, environmental microbiology, drinking water, food quality, genomics and molecular diagnostics. Her work is at the intersection of environmental exposures (food and water) and clinical outcomes. She uses emerging technologies to improve routine surveillance and outbreak investigations for foodborne and waterborne pathogens.
Her current research interests include development of new water-quality tests using metagenomics, targeted resequencing of wetland sediments to study the emergence of avian influenza strains and whole-genome sequencing of giardia and salmonella. She is keen to promote the translation of research methods to routine testing in diagnostic and reference laboratories.
Dr. Neville Sanjana is a Core Faculty Member at the New York Genome Center and Assistant Professor in the Departments of Biology and of Neuroscience and Physiology at New York University. As a bioengineer, Dr. Sanjana creates new tools to understand the impact of genetic changes on the nervous system and cancer evolution. His lab has harnessed high-throughput gene editing to pinpoint which regions of the genome are involved in diverse diseases.
Dr. Sanjana is a recipient of the Presidential Early Career Award for Engineers and Scientists, Wachtel Prize for Cancer Research, the Cancer Research Institute Technology Impact Award, the NIH’s New Innovator Award, the DARPA Young Faculty Award, the Sidney Kimmel Scholar Award, the Melanoma Research Alliance Young Investigator Award, and also is the Leichtung Family Investigator of the Brain and Behavior Foundation. Dr. Sanjana holds a PhD in Brain and Cognitive Sciences from MIT, a BS in Symbolic Systems and a BA in English from Stanford University.
Dr. Gregg Semenza is a physician and scientist known for his investigations of how cells use and regulate oxygen and for the discovery of hypoxia-inducible factor (HIF), a molecule that is activated by reduced oxygen availability in cells and that plays a critical role in enabling cells to survive in certain disease states.
Semenza’s research opened a door for the investigation and development of novel treatments for diseases such as cancer and ischemic cardiovascular disease, in which reduced oxygen availability is a major feature of disease. For his discoveries he was awarded the 2019 Nobel Prize for Physiology or Medicine (shared with American scientist William G. Kaelin, Jr., and British scientist Sir Peter J. Ratcliffe).
Bert Vogelstein is currently the co-Director of the Ludwig Center at the Johns Hopkins Kimmel Cancer Center and an Investigator of the Howard Hughes Medical Institute. In the late 1980’s, he and his colleagues formulated the idea that cancer is caused by the sequential mutations of specific oncogenes and tumor suppressor genes. In the process of corroborating this model, they discovered many of the most important genetic alterations contributing to cancers. Their basic scientific studies have been distinguished by a focus on practical applications of the knowledge gained from their work.