Stephen F. Kingsmore

Dr. Stephen F. Kingsmore is President/CEO of Rady Children’s Institute for Genomic Medicine where he leads a multi-disciplinary team of scientists, physicians and researchers who are pioneering the use of rapid Whole Genome Sequencing to enable precise diagnoses for critically-ill newborns.

Among his achievements, Dr. Kingsmore holds the Guinness World Record for achieving the fastest molecular diagnosis using whole genome sequencing in just 19.5 hours.

Before being selected to lead RCIGM, he was the Dee Lyons/Missouri Endowed Chair in Genomic Medicine at the University of Missouri-Kansas City School of Medicine and Director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital, Kansas City. Dr. Kingsmore received MB ChB BAO BSc and DSc degrees from the Queen’s University of Belfast. He trained in clinical immunology in Northern Ireland and did residency in internal medicine and fellowship in rheumatology at Duke University Medical Center.

Elizabeth McNally

Elizabeth McNally MD Ph is a physician and scientist who directs the Center for Genetic Medicine at Northwestern University’s Feinberg School of Medicine in Chicago IL.  As the Elizabeth J. Ward Professor of Genetic Medicine, Dr. McNally is a cardiologist with expertise in cardiovascular genetics.  She developed one of the first Cardiovascular Genetics clinics in the nation.  Dr. McNally’s research focuses on understanding genetic mechanisms underlying heritable cardiac disorders.  By developing a deeper understanding as to how these genetic mutations exert their effects, she is using these genetic signals to drive the development of new therapies.  Dr. McNally has a special interest in neuromuscular genetic diseases like muscular dystrophy since often these disorders have accompanying cardiovascular complications.  Her translational accomplishments have been recognized through an award from the Burroughs Wellcome Foundation and as a recipient a Distinguished Clinical Scientist Award from the Doris Duke Charitable Foundation.  She serves on the Board of Directors for the Muscular Dystrophy Association and is the current Chair for the Council on Basic Cardiovascular Sciences of the American Heart Association.  She is a past president of American Society for Clinical Investigation and currently President of the Association of American Physicians.

Fabiola Quintero-Rivera

Fabiola Quintero-Rivera received her M.D. and training in clinical dysmorphology from University of Antioquia in Medellin, Colombia in 2002, completing her last year of medical schooling on scholarship at Harvard Medical School. After completing her degree, she stayed on at the Center for Human Genetic Research at Massachusetts General Hospital (MGH) and at Harvard Medical School as a Co-Investigator in the Developmental Genome Anatomy Project (DGAP). In 2004, she won a competitive MGH clinical research award for her work on the identification of a gene (NFIA) important for the development of the corpus callosum. That same year, she also joined the Clinical Cytogenetics Fellowship program at Harvard. Dr. Quintero-Rivera is certified by the American Board of Medical Genetics and Genomics (ABMGG) and the American Society for Clinical Pathology. In 2007, Dr. Quintero-Rivera joined the University of California, Los Angeles (UCLA). In 2015, She completed a Fellowship in Medical Education David Geffen School Of Medicine at UCLA. She was given accelerated promotions to Associate Professor Step 1 and Step 3, in 2012 and 2015, respectively, in the Department of Pathology and Laboratory Medicine at UCLA, as well as maintaining her position as Associate Director of the UCLA Clinical and Molecular Cytogenetics Laboratory and Director of the UCLA Clinical Cytogeneticists Scientist Training Program. In 2019 she was promoted to Clinical Professor. 

She also played a key role in the establishment of the UCLA Clinical Microarray core, Exome sequencing, and UCLA Clinical Genomics Center. In addition, Dr. Quintero-Rivera has participated in the development of the American College of Medical Genetics and Genomics (ACMG) standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants (CNVs) detected by microarray. Until 2020 she was part of the Genomic Data board for interpretation and reporting of clinical exome sequencing for diagnosis of Mendelian Disorders. She has received several awards for her research, teaching and service, including the American Association of Medical Colleges (AAMC) Faculty Career Development award at UCLA, and the Outstanding Alumni Award presented during the 230-year Anniversary of her Alma Mater, School of Medicine Universidad de Antioquia, Medellin, Colombia, and most recently the UCLA Intercampus Medical Genetics Training program 2020 “Excellence in Classroom Instruction” Award. Many of the fellows she has taught and mentored have become faculty at UCLA and other academic medical centers nationally and internationally. In 2015, She completed a Fellowship in Medical Education David Geffen School Of Medicine at UCLA. Until 2020 she was the Program Director, ABMGG Cytogenetics Fellowship Training at UCLA, the Associate Program Director of the Laboratory Genomics and Genetics (LGG) fellowship, and the Director of the Medical Genetic course for fellows enrolled in the UCLA Intercampus Medical Genetics Program. She is active in the education of fellows, residents, medical students and technologists. In 2020 she joined the Department of Pathology and Laboratory Medicine at School of Medicine, University of California Irvine (UCI), as a Clinical “X” Professor, and as the inaugural and founder Director of UCI’s Clinical Cytogenetics and Genomics Laboratory. 

Joyce Tung

Joyce Tung is Vice President of Research at 23andMe, and manages the 23andMe research team, which is responsible for new research methods and tools development, genetics discovery for therapeutics target identification and validation, academic and industry research collaborations, and the ethical conduct of 23andMe’s consumer-based research program. Before joining 23andMe in 2007. Joyce was a postdoctoral fellow at Stanford University, where she studied the genetics of mouse and human pigmentation. She graduated from Stanford with honors and distinction with a B.S. in Biological Sciences and a minor in Computer Science, and earned her Ph.D. in Genetics from the University of California, San Francisco where she was a National Science Foundation graduate research fellow.

Jef Boeke

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.

Mark Daly

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.

Catherine Brownstein

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.

Joshua Denny

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 phenomewide 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.

John Greally

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.

Cheryl Hayashi

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.