Planning Committee

Co-Chair: Robert C. Green, M.D., M.P.H., is a professor of medicine (genetics) at Harvard Medical School and a board-certified medical geneticist who directs the Preventive Genomics Clinic, the Genomes2People Research Program, and the Precision Population Health Initiative at Mass General Brigham, the Broad Institute, and Ariadne Labs. He leads empirical research studies to establish the medical, behavioral, and economic impact of using genetic risk information. Dr. Green’s work has provided early data on the clinical utility and cost-effectiveness of genomic sequencing in healthy adults (the MedSeq Project), in active duty military personnel (the MilSeq Project), and most recently in healthy newborn infants (the BabySeq Project). He also co-leads policy development for returning genomic information to research participants in the Global Alliance for Genomics and Health, the Verily-Google Baseline Project, and the All of Us Research Program. He received his B.A. from Amherst College and his M.D. from the University of Virginia School of Medicine and completed specialty training neurology and medical genetics programs at Harvard Medical School.

Co-Chair: Tippi MacKenzie, M.D., is a professor of surgery at the University of California, San Francisco, and a member of the Eli and Edythe Broad Institute for Regeneration Medicine and the Biomedical Sciences Program. She is a pediatric and fetal surgeon who is focused on developing better ways to diagnose and treat genetic diseases before birth. She runs a translational research lab examining fetal immunology and maternal-fetal tolerance, with the goal of inventing new fetal therapies for patients with genetic diseases or pregnancy complications. She has moved two fetal molecular therapies from the lab to the clinic as phase 1 clinical trials after obtaining Food and Drug Administration (FDA) approval: in utero hematopoietic stem cell transplantation to treat fetuses with alpha thalassemia and in utero enzyme replacement therapy in fetuses with lysosomal storage disorders. Her research has been supported by the National Institutes of Health (NIH), the March of Dimes, the California Institute for Regeneration Medicine, and the Burroughs-Wellcome Fund. Dr. MacKenzie was awarded the Jacobson Award by the American College of Surgeons for her innovative work and is a member of the American Society for Clinical Investigation. She recently co-founded the Center for Maternal-Fetal Precision Medicine, with the aim of accelerating the processes that link basic research to clinical trials to improve maternal, fetal, and neonatal health. This Center is testing methods to improve prenatal diagnosis of birth defects and developing new cellular and molecular therapies for definitive fetal treatment. She received her B.A. in biochemistry from Harvard University and her M.D. from Stanford University School of Medicine. She completed her surgical residency at Brigham and Women’s Hospital in Boston and fellowships in fetal surgery and pediatric surgery at the Children’s Hospital of Philadelphia.

Michele Caggana, Sc.D., FACMG, is currently the chief of the Laboratory of Human Genetics at the New York State Department of Health’s (NYSDOH’s) Wadsworth Center and the deputy director of the Division of Genetics and head of the Genetic Testing Section for the Clinical Laboratory Evaluation Program at the NYSDOH. She was appointed director of the Newborn Screening Program in 2006. Dr. Caggana joined the Wadsworth Center as a research scientist in 1996 after receiving her Sc.D. in cancer biology from the Harvard University School of Public Health and completing postdoctoral work in molecular virology at the Wadsworth Center and clinical molecular genetics at the Mt. Sinai School of Medicine.  

Nina Gold, M.D., is the director of prenatal medical genetics and the associate director for research at Mass General Brigham Personalized Medicine. She is a board-certified pediatrician and medical geneticist with specialized training in medical biochemical genetics. She specializes in the diagnosis and care of children and adults with genetic and metabolic conditions. Her research interests include actionable genetic information and genetics medical education. Dr. Gold is the recipient of several awards, including the Outstanding Resident Teaching Award from Harvard Medical School and the Shire/Genzyme ACMG Foundation Next Generation Medical Biochemical Subspecialty Genetics Training Award from the American College of Medical Genetics. She received her M.D. from Harvard Medical School and completed a combined residency in pediatrics and genetics at Boston Children's Hospital and then completed specialized fellowship training in medical biochemical genetics at the Children's Hospital of Philadelphia. 

Annie Kennedy is chief of policy and advocacy at the EveryLife Foundation for Rare Diseases. Focused on improving health outcomes for people living with rare diseases by advancing the development of treatment and diagnostic opportunities for rare disease patients through science-driven public policy, her work includes building strong partnerships with policy makers, federal agencies, industry, and alliances. She has served within the community for nearly three decades through her roles with Parent Project Muscular Dystrophy (PPMD) and the Muscular Dystrophy Association (MDA). In that time she helped lead legislative efforts around passage and implementation of the MD-CARE Act (2001, 2008, 2014) and the Patient Focused Impact Assessment Act (PFIA), which became the Patient Experience Data provision within the 21st Century Cures Act (sec 3001); engaged with the Food and Drug Administration (FDA) and industry around regulatory policy and therapeutic pipelines; led access efforts as the first therapies were approved in Duchenne; and engaged with the Institute for Clinical and Economic Review (ICER) about the development of the modified framework for the valuation of ultra-rare diseases. Ms. Kennedy’s community roles include service on the board of directors of Cure SMA, the Patient Driven Values in Healthcare Evaluation (PAVE) Steering Committee, FasterCures Cures for Life Initiative, the National Health Council’s PCORI Valuation Group, the Innovation and Value Initiative (IVI) Patient Advisory Committee, the National Duchenne Newborn Screening Pilot Program Steering Committee, the Institute for Gene Therapies (IGT) Patient Advocacy Advisory Council, the State Rare Disease Education Initiative (STRiDE) National Steering Committee, and the leadership team for the development of the NCATS/ORDR Tool Kit Project. 

Stephen F. Kingsmore, MBChB, BAO, B.Sc., D.Sc., is the president and chief executive officer of Rady Children’s Institute for Genomic Medicine (RCIGM), 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. Previously 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 in Kansas City. 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. He received his MBChB, BAO, and B.Sc. in medicine and his D.Sc. in systems biology from Queen’s University Belfast. He trained in clinical immunology in Northern Ireland and completed a residency in internal medicine and a fellowship in rheumatology at Duke University Medical Center. 

Priya Kishnani, M.D., MBBS, is the chief of the Medical Genetics Division and the director of the Alice and YT Chen Pediatric Genetics and Genomics Center. Part of Duke University Medical Center (DUMC), the center focuses on developing new therapies for rare genetic disorders. She also serves as the director of the lysosomal and glycogen storage disease program and the metabolic clinic at DUMC. Dr. Kishnani moved to the United States in 1991 after completing a residency in pediatrics in Mumbai, India. She completed a fellowship in clinical and biochemical genetics at DUMC and shortly thereafter joined the faculty at Duke University. She is certified by the American Board of Medical Genetics and the American Board of Biochemical Genetics.

Matthew Might, Ph.D., is the director of the Hugh Kaul Precision Medicine Institute at the University of Alabama at Birmingham (UAB). He also is the Hugh Kaul Endowed Chair of Personalized Medicine, a professor of internal medicine, a professor of computer science, the co-founder and chief scientific officer of NGLY1.org, and a visiting professor and senior lecturer in the Department of Biomedical Informatics at Harvard Medical School. Previously, Dr. Might was a strategist in the Executive Office of the President in the White House, and he was a co-founder and scientific advisor to Pairnomix. Q State Biosciences acquired Pairnomix in October 2018; he remains a scientific advisor and board member. He received his Ph.D. in computer science from the Georgia Institute of Technology.

Melissa Wasserstein, M.D., is the chief of the Division of Pediatric Genetic Medicine at the Children’s Hospital at Montefiore and a professor of pediatrics and genetics at the Albert Einstein College of Medicine. A board-certified biochemical geneticist and pediatrician, Dr. Wasserstein diagnoses and manages patients with inborn errors of metabolism. Her research activities focus on expanding and enhancing newborn screening to optimize the outcome of infants with rare disorders. She is the principal investigator (PI) on ScreenPlus, a multi-disorder, multi-tiered, consented pilot newborn screening program that includes an exploration of the ethical issues associated with newborn screening for complex conditions. In addition, she has worked with the acid sphingomyelinase deficiency community for her entire career, studying the natural history of this rare disorder and evaluating the safety and efficacy of therapy. Another research interest is evaluating the implementation of genomic medicine in underserved populations through her role as an MPI on NYCKidSeq, a multi-site project in the Clinical Sequencing Evidence-Generating Research (CSER) Consortium. She received her M.D. from NYU School of Medicine and completed a pediatrics residency and a medical genetics fellowship at Mount Sinai.

Tim Yu, M.D., Ph.D., is a neurogeneticist at Boston Children’s Hospital and Harvard Medical School. He is on the faculty in the Division of Genetics and Genomics at Boston Children’s Hospital, is an associate professor at Harvard Medical School, and is an associate member of the Broad Institute. He leads a group that operates at the intersection of genomics, neurobiology, and bioinformatics, wielding these tools to understand and treat rare pediatric neurologic diseases. Dr. Yu has pioneered bench-to-bedside pathways for developing and deploying antisense oligonucleotides as individualized medicines for orphan genetic conditions. Other research interests include autism gene discovery, neurobiology, and translational genomics. He received his A.B. in biochemistry from Harvard College and his M.D. and Ph.D. in neuroscience from the University of California, San Francisco, and completed a neurology residency at Massachusetts General Hospital and Brigham and Women’s Hospital.

 

NIH Staff

Philip John (P.J.) Brooks, Ph.D., is a program director at the National Center for Advancing Translational Sciences (NCATS) Office of Rare Diseases Research (ORDR). He represents NCATS on the Trans-NIH Gene Therapy Working Group and the Regenerative Medicine Innovation Project, and he also is the Working Group Coordinator for the NIH Common Fund program on Somatic Cell Genome Editing. He recently was elected as the chair of the Interdisciplinary Scientific Committee of the International Rare Diseases Research Consortium. Previously, Dr. Brooks was in the NCATS Division of Clinical Innovation, where he was the lead program director for the Clinical and Translational Science Awards (CTSA) Program Collaborative Innovation Awards, which are designed to fund projects that will result in novel and creative approaches to overcoming roadblocks in translational science (PAR-18-244 and PAR-18-245), and an investigator in the intramural program of the National Institute on Alcohol Abuse and Alcoholism (NIAAA). He developed an internationally recognized research program focused on two distinct areas: the molecular basis of alcohol-related cancer and rare neurologic diseases resulting from defective DNA repair, including xeroderma pigmentosum, Cockanye syndrome, and Fanconi anemia. He received his Ph.D. in neurobiology from the University of North Carolina at Chapel Hill and completed a postdoctoral fellowship at the Rockefeller University.

Jill A. Morris, Ph.D., is an extramural program director at the National Institute of Neurological Disorders and Stroke (NINDS), where she is responsible for both disease and basic research portfolios. Her disease research portfolio includes multiple rare neurological disorders including lysosomal storage disorders, leukodystrophies, inborn errors of metabolism, neurofibromatosis 1 and 2, schwannomatosis, congenital disorders of glycosylation (CDGs), mitochondrial disorders, peroxisomal disorders, metal metabolism disorders, and Tourette syndrome. Her basic grant portfolio includes technology development for gene-targeted therapies including gene, ASOs, and RNAi therapies as well as delivery methods. Dr. Morris also is the NINDS liaison for the Rare Disease Clinical Research Network (RDCRN), an initiative of the National Center for Advancing Translational Sciences’ (NCATS’) Office of Rare Disease Research (ORDR) in collaboration with NINDS. NINDS co-funds 11 of the 20 consortia as well as the Data Management Coordinating Center (DMCC). She is also a working group member of URGenT: The NINDS Ultra-Rare Gene-based Therapy Network that is coming soon with an anticipated initial application deadline of October 2021. Prior to coming to the National Institutes of Health (NIH) Dr. Morris was an assistant professor in the Department of Pediatrics at the Feinberg School of Medicine at Northwestern University and Children’s Memorial Research Center. Her laboratory studied the function of DISC1, a schizophrenia susceptibility gene. Previously, she was a senior research biologist in the Department of Neuroscience at Merck Research Laboratories, where she directed research projects relating to bipolar affective disorder, schizophrenia, Alzheimer’s disease, and Parkinson’s disease and a senior staff fellow in the Unit of Molecular Neurogenetics at the NIH, where her research led to the identification and characterization of the gene responsible for the autosomal recessive neurodegenerative disorder called Niemann-Pick type C disease. She received her Ph.D. in cell/cellular and molecular biology from the University of Minnesota.

Melissa A. Parisi, M.D., Ph.D., is chief of the Intellectual and Developmental Disabilities Branch (IDDB) at the National Institutes of Health’s (NIH’s) Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), where her duties include oversight of NICHD’s Intellectual and Developmental Disabilities Research Centers. She is interested in advancing basic, clinical, and translational research that will improve the lives of individuals with developmental disabilities. Prior to joining the NIH, she was an assistant professor in the Department of Pediatrics at the University of Washington and Seattle Children's Hospital, where she was active as a clinical geneticist and as a researcher in the field of congenital malformations of the human hindbrain, specifically Joubert syndrome and related disorders. In her clinical practice in Washington and Alaska, Dr. Parisi was involved in the evaluation, diagnosis, and management of children and adults with genetic syndromes, chromosomal disorders, and developmental disabilities. She also served as chair of the scientific advisory board of the Joubert Syndrome and Related Disorders Foundation. She received her M.D. and Ph.D. in developmental biology from Stanford University, where her research focused on mitochondrial transcription. She completed a pediatric residency at the University of Washington followed by fellowship training in medical genetics.

Aaron C. Pawlyk, Ph.D., is chief of the Obstetric and Pediatric Pharmacology and Therapeutics Branch (OPPTB) at the National Institute of Child Health and Human Development (NICHD). He also is a coordinator of the NIH Common Fund program, Illuminating the Druggable Genome (IDG). His long-term research interests and experience include drug discovery and preclinical development, pharmacogenomics, and mathematical modeling, especially how these approaches can be applied across multiple therapeutic areas. Prior to joining NICHD, Dr. Pawlyk served at the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) as a program director and senior advisor in the Division of Diabetes, Endocrinology, and Metabolic Diseases. At NIDDK, his portfolio included drug discovery, pharmacogenomics, and drug response research. He directed the Type 1 Diabetes-Rapid Access to Interventional Development Program, which offered preclinical development contract services to outside researchers. As a program official, he managed cooperative agreement components of the Accelerating Medicines Partnership for Type 2 Diabetes and initiated and directed a trans-NIDDK program on therapeutics translation. Before joining NIH, he held multiple positions in the pharmaceutical sector. He received his B.A. in biology and biochemistry from the University of Pennsylvania and his Ph.D. in biochemistry from Texas A&M University, followed by postdoctoral studies at the University of Pennsylvania. 

Megan N. Phillips joined the Eunice Kennedy Shriver National Institute of Child Health and Human Development’s (NICHD’s) Intellectual and Developmental Disabilities Branch (IDDB) as a program analyst in July 2020. She works with the IDDB team on several projects and programs related to intellectual developmental disability research and newborn screening. She received her B.S. in neuroscience and behavioral biology from Emory University. 

Meera Shah, M.P.H., joined the National Center for Advancing Translational Sciences (NCATS) Office of Rare Diseases Research (ORDR) as a program analyst in December 2018. She works with the ORDR team on numerous projects and programs to advance diagnosis of and treatment for rare diseases through research. She also manages the social media accounts for the ORDR. Prior to joining NCATS, Ms. Shah spent 2 years at the National Institute of Mental Health (NIMH) in its Intramural Research Program (IRP), where she worked as a program specialist in the Office of Fellowship Training. She primarily worked on establishing a science communication training series, developing website content, and collecting and analyzing NIMH IRP fellowship data. She received her bachelor’s degree in health sciences from the University of South Florida and her M.P.H. from the George Washington University. 

Ainslie Tisdale is a postbaccalaureate research fellow in the Office of Rare Diseases Research (ORDR) at the National Center for Advancing Translational Sciences (NCATS. She works primarily on the IDeaS Initiative, a pilot study to assess the impact of rare diseases on patients and healthcare systems. This project involves the creation of an innovative and collaborative approach to analyzing healthcare systems data with the goal of identifying and treating rare disease patients sooner. In May of 2021, she will transition to a more involved role at ORDR as a program analyst for the IDeaS Initiative. She received her bachelor’s degree in international relations and global studies from the University of Texas at Austin and will receive her MPH from Johns Hopkins Bloomberg School of Public Health.

Tiina Urv, Ph.D., is the program director for the Rare Diseases Clinical Research Network (RDCRN), a multidisciplinary international program in the National Center for Advancing Translational Sciences (NCATS) Office of Rare Diseases Research (ORDR). As the lead for the RDCRN program, she collaborates with 10 National Institutes of Health (NIH) Institutes to manage 22 consortia and a central Data Management Coordinating Center. The RDCRN has more than 200 participating sites in 17 countries and more than 100 Patient Advocacy Groups as research partners and conducts research on about 200 rare diseases. Before joining the ORDR, she was a program director in the Division of Clinical Innovation, where she provided stewardship for multiple Clinical and Translational Science Awards Program hubs and worked with the Trial Innovation Network as well as with NCATS’s ORDR. Previously she worked as a program director in the Intellectual and Developmental Disabilities Branch at the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), where she coordinated the Hunter Kelly Newborn Screening Research Program; chaired the trans-NIH Fragile X research program; and managed a diverse portfolio of basic, behavioral, and biobehavioral research related to developmental disabilities and rare diseases. Prior to joining NIH, she was an assistant professor at the University of Massachusetts Medical School’s Eunice Kennedy Shriver Center and a research scientist at the New York State Institute for Basic Research in Developmental Disabilities. She received her B.A. in sociology from the University of Washington and her M.A. in applied behavior analysis and her Ph.D. in intellectual and developmental disabilities from Columbia University. 

National Center for Advancing Translational Sciences