Working Group 1: Who, What, & When
Working group members, from academia, industry, and government in multiple fields, have been meeting since February 2021 to identify roadblocks and possible solutions. Working Group 1 has been focusing on:
  • Who are the individuals that could benefit from gene-targeted therapies – now and in the future?
  • What novel approaches are needed to enable development of gene-targeted therapies for all genetic rare diseases – now and in the future?
  • When is the optimal time to identify individuals who could benefit from gene-targeted therapies (e.g., newborn screening)?

Working Group Members

Co-Chair: 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.

Co-Chair: 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.

Erika Fullwood Augustine, M.D., M.S., is an associate chief science officer and the director of the Clinical Trials Unit at the Kennedy Krieger Institute in Baltimore, Maryland. She specializes in the care of children with movement disorders. Her clinical research program focuses on advancing therapeutic development for rare pediatric neurological disorders, with emphasis on comprehensive clinical phenotyping and trial design. She leads clinical programs developing novel therapeutics for the neuronal ceroid lipofuscinoses (Batten diseases), a group of rare pediatric neurodegenerative disorders. Her current NIH-funded work examines trial readiness of clinical outcomes and digital tools in Batten diseases. As a diversity officer for the K12 Child Neurologist Career Development Program, Dr. Augustine founded the Minority Research Scholars Program, a collaborative initiative with the Child Neurology Society dedicated to fostering diversity in the next generation of child neurologist clinician-scientists. She received her M.D. from the University of Rochester School of Medicine and Dentistry and her M.S. in translational research from the University of Rochester. She completed her residency in pediatrics and pediatric neurology at Harvard University/Boston Children’s Hospital and dual fellowships in pediatric movement disorders and experimental therapeutics.

Mei Baker, M.D., FACMG, is a professor in the Department of Pediatrics and co-director of the Newborn Screening Laboratory at the University of Wisconsin School of Medicine and Public Health. She is a member of the Advisory Committee on Heritable Disorders in Newborns and Children and the Association of Public Health Laboratories (APHL) Newborn Screening (NBS) Committee and a council member of the International Society for Neonatal Screening (ISNS). Dr. Baker practiced medicine before being trained in both biochemical and molecular genetics and obtained clinical biochemical genetics certification from the American Board of Medical Genetics and Genomics in 2009. She has 15 years of experience in routine NBS with specific interest in, and a successful record of, applying emerging technologies to implement new screening tests for disorders and to improve ongoing screening tests. She oversees NBS testing involving molecular technologies and is responsible for NBS-testing-associated policies and regulations. She is one of the leading scientists who made Wisconsin the first state in the nation and the world to implement universal NBS for severe combined immunodeficiency (SCID) in 2008. She developed and implemented cystic fibrosis NBS using next generation sequencing technology in the Wisconsin NBS program. She received the Harry Hannon Laboratory Improvement Award in Newborn Screening at the AHPL 2014 Newborn Screening and Genetic Testing Symposium. Her work has been described as work that “profoundly impacted and improved the current practice of newborn screening locally, regionally, nationally, and internationally.” She is the 2020 recipient of the Paster Family Foundation Innovation Award. She received her doctorate of medicine from Anhui Medical University in the People’s Republic of China and completed her residency at the Anhui Provincial Hospital.

Amy Brower, Ph.D., is a medical geneticist at the American College of Medical Genetics and Genomics (ACMG) and the co-principal investigator of the Newborn Screening Translational Research Network (NBSTRN) in the Eunice Kennedy Shriver National Institute of Child Health and Human Development’s (NICHD’s) Hunter Kelly Newborn Screening Research Program. She directs a team that develops resources and tools to collect, analyze, visualize, and share clinical and genomic research data to better understand genetic disease across the lifespan. The NBSTRN collaborates with national research projects working to discover new ways to detect and treat diseases affecting newborns and young children, including a 5-year collaborative effort to understand the benefits of sequencing the genome of newborns, a 2-year pilot of Duchenne muscular dystrophy to assess the benefit of early identification and treatment through newborn screening, and the creation and use of common data elements with the National Library of Medicine to enable the aggregation of diverse data sets and registries. Dr. Brower has a background in medical genetics, genomics, informatics, Food and Drug Administration (FDA) submissions, newborn screening, translational research, molecular diagnostics, and bioinformatics. She was a member of the Human Genome Project and International HapMap Project and developed molecular diagnostic and informatics platforms over a decade of work in the device industry. She serves on several national and foundation advisory boards and was an inaugural member of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. Dr. Brower has a son with severe combined immune deficiency. She received her Ph.D. in medical genetics from the University of Nebraska Medical Center. 

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.  

Jennifer L. Cohen, M.D., is an assistant professor of pediatrics in the Division of Medical Genetics at Duke University. Her research interests and expertise are in perinatal genetic medicine with a current focus on earlier diagnosis and management of rare genetic diseases. She is actively involved in the Pompe disease gene therapy trials at Duke University. Her long-time research interests and training have led her to pursue the study of in utero treatment for lysosomal storage diseases and to pursue implementation of more rapid and comprehensive neonatal diagnostic testing in critically ill infants. She attended Yale College and then received her M.D. from the Icahn School of Medicine at Mount Sinai. She completed a combined residency program in pediatrics and medical genetics at the Children’s Hospital of Philadelphia.

Lex M. Cowsert, Ph.D., has been the director of research development at the National PKU Alliance (NPKUA) since June 2018. He has more than 20 years of experience in the biotech industry where he held positions of increasing responsibility in target selection, drug discovery, preclinical development, and clinical development across a wide array of disease indications including cancer, infectious diseases, and central nervous system (CNS) and holds 144 issued U.S. patents. Dr. Cowsert has served on grant review committees, as lead science liaison to the Food and Drug Administration (FDA) for active investigational new drugs (INDs), as editor and reviewer for peer-reviewed scientific journals, and on organizing committees for international scientific meetings. He received his B.S. in biology from the University of Florida, Gainesville, and his Ph.D. in molecular biology/pathology, immunology of HPV infection from Georgetown University and completed his postdoctoral studies at the National Cancer Institute (NCI) in Bethesda, Maryland.

Louis Garrison, Ph.D., is a professor emeritus at the Comparative Health Outcomes, Policy, and Economics (CHOICE) Institute in the University of Washington School of Pharmacy; a senior visiting fellow at the Office of Health Economics, London, United Kingdom; and co-chair of the Policy Outlook Committee for the ISPOR Health Science Policy Council. For the first 13 years of his career, Dr. Garrison worked in nonprofit health policy research, first at the Battelle Human Affairs Research Centers and then at the Project HOPE Center for Health Affairs, where he was the director from 1989 to 1992. Following this, he worked as an economist in the pharmaceutical industry for 12 years as the vice president and head of Health Economics and Strategic Pricing at Roche Pharmaceuticals in Basel, Switzerland. He was ISPOR president from July 2016 to June 2017 and recently co-chaired the ISPOR Special Task Force on U.S. Value Frameworks. He has more than 170 publications in peer-reviewed journals. He received his B.A. in economics from Indiana University and his Ph.D. in economics from Stanford University.

Joseph Gleeson, M.D., is the Rady Children's Hospital Auxilliary Endowed Professor of Neuroscience and the director of neuroscience research at the Rady Children's Institute for Genomic Medicine. He also is the head of the Neurogenetics Laboratory at the University of California, San Diego. He is a child neurologist and geneticist. His research interests in pediatric brain disease include developmental defects, gene-environment interactions, somatic mosaicism, and transformative therapies to cure and ultimately prevent disease in children. Previously Dr. Gleeson was an investigator with the Howard Hughes Medical Institute, the Hess Professor and the head of the Laboratory for Pediatric Brain Disease at Rockefeller University, and the director of mendelian sequencing at the New York Genome Center. He received his M.D. from the University of Chicago Pritzker School of Medicine and trained in pediatrics, neurology, and neurogenetics at Boston Children's Hospital and Harvard Medical School. 

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. 

Steven Gray, Ph.D., is an associate professor in the Department of Pediatrics at the University of Texas Southwestern Medical Center. His core expertise is in adeno-associated virus (AAV) gene therapy vector engineering, followed by optimizing approaches to deliver a gene to the nervous system. His major focus is in AAV vector development to develop vectors tailored to serve specific clinical and research applications involving the nervous system. These include the development of novel AAV capsids amenable to widespread central nervous system (CNS) gene transfer. As AAV-based platform gene transfer technologies have been developed to achieve global, efficient, and in some cases cell-type specific CNS gene delivery, Dr. Gray’s research focus has also included preclinical studies to apply these reagents toward the development of treatments for neurological diseases. Currently these include preclinical studies for Rett syndrome, giant axonal neuropathy (GAN), Tay-Sachs disease, Krabbe disease, aspartylglycosaminuria (AGU), and Batten disease and have expanded into human clinical studies to test a gene therapy approach for GAN. He received his Ph.D. in molecular biology from Vanderbilt University after receiving his B.S. with honors from Auburn University. He performed a postdoctoral fellowship focusing on gene therapy in the laboratory of Jude Samulski at the University of North Carolina, Chapel Hill. 

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.

Julie Lekstrom Himes, M.D., is the vice president and head of Clinical Sciences, Hematology, at Takeda Pharmaceutical Company, pursuing development in multiple rare hematology indications including hemophilia, von Willebrand’s disease, and thrombotic thrombocytopenic purpura. In her 20 years in the pharmaceutical and biotech industry she has led the clinical development of innovative therapies including small molecule corrector and potentiator combinations for cystic fibrosis and, recently, a CRISPR-Cas9 gene editing/autologous hematopoietic stem cell therapy for the treatment of hemoglobinopathies. She received her M.D. from the VCU College of Medicine and completed a residency in internal medicine at the University of Michigan and a fellowship in infectious diseases at the National Institutes of Health. 

Dwight Koeberl, M.D., Ph.D., is a professor of pediatrics and molecular genetics and microbiology at Duke University Medical Center. He also served as the medical director of the Pediatrics Biochemical Genetics Laboratory and sees patients in the Metabolic Clinic. His work has focused on the development of new therapy for glycogen storage diseases (GSDs). Recently his laboratory developed gene therapy for GSD type Ia and GSD type II. He received his M.D. from Mayo Medical School and completed a pediatrics residency at the University of California, San Francisco, and fellowship training in clinical and biochemical genetics at the University of Washington.

Rachel Lee, Ph.D., oversees the operation of the Texas Department of State Health Services Laboratory Microbiological Sciences Branch; is a board-certified high-complexity clinical laboratory director in molecular diagnostics; and currently serves as the chair of the Association of Public Health Laboratories (APHL) Newborn Screening Molecular Subcommittee, a member of the APHL Newborn Screening and Genetics in Public Health Committee, an instructor for the APHL/CDC Newborn Screening Molecular Training Workshop, a team member of the APHL/CDC Molecular Assessment Program, a member of the Newborn Screening Technical Assistance and Evaluation Program Site Review Team, a mentor for an APHL bioinformatics fellow, and an inspector for the College of American Pathologists. Dr. Lee has 15 years of newborn screening (NBS) laboratory experience and extensive experience in research and development of molecular techniques and assays. She has implemented second-tier molecular testing for galactosemia, medium chain acyl carnitine deficiency, very-long-chain acyl-CoA dehydrogenase deficiency, and cystic fibrosis and was instrumental in adding severe combined immunodeficiency (SCID) and X-linked adrenoleukodystrophy (X-ALD) to the Texas NBS panel. She has provided scientific advice and shared knowledge with more than 20 state NBS programs through site visits and assessment and served successfully as the principal investigator overseeing several research and quality improvement grants related to newborn screening. She has a Ph.D. in food microbiology.

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.

Peter Marks, M.D., Ph.D., is the director of the Center for Biologics Evaluation and Research (CBER) at the Food and Drug Administration (FDA). CBER is responsible for assuring the safety and effectiveness of biological products including vaccines; allergenic products; blood and blood products; and cellular, tissue, and gene therapies. Previously he was a member of the attending staff as a clinician-scientist and eventually served as clinical director of hematology at Brigham and Women's Hospital in Boston. Dr. Marks then worked for several years in the pharmaceutical industry on the clinical development of hematology and oncology products prior to returning to academic medicine at Yale University, where he led the Adult Leukemia Service and served as the chief clinical officer of the Smilow Cancer Hospital. He received his Ph.D. in cell and molecular biology and his M.D. from New York University and completed an internal medicine residency and hematology/medical oncology fellowship at Brigham and Women's Hospital. He is board certified in internal medicine, hematology, and medical oncology and is a Fellow of the American College of Physicians. 

Nancy Mendelsohn, M.D., is the chief medical officer of Complex Health Solutions at UnitedHealthcare (UHC) and a member of the UnitedHealth Group (UHG) medical affairs leadership team. Her role encompasses clinical strategy, leadership, and execution in support of UHC’s Complex Health Solutions. Since joining UHG in fall of 2019 she has been active across UHG in an effort to provide clinical guidance and to support UHG’s strategic priorities related to genomic medicine working across Optum, Research and Design, and UHC. Prior to her position at UHG, she was chief of specialty pediatrics at Children’s Minnesota. Most of her clinical experience was at Children’s Minnesota as a member of the genetics faculty and the chief of specialty pediatrics. She has 27 years as a board-certified medical geneticist and a national leader in the clinical genetics community. Dr. Mendelsohn has more than 50 peer-reviewed publications, book chapters, and presentations. She has specific clinical expertise in lysosomal storage disorders and has served on national committees for the American Academy of Pediatrics (AAP), the American Board of Medical Genetics & Genomics (ABMGG), and for the state of Minnesota. She received her M.D. from the University of Missouri, Columbia, and completed a residency in pediatrics and a fellowship in medical genetics at Washington University Children’s Hospital in St. Louis, Missouri.

Susan M. Tanksley, Ph.D., is the laboratory operations manager in the Laboratory Services Section of the Texas Department of State Health Services in Austin, Texas. She manages the day-to-day operations of Texas’ public health laboratory, which encompasses the state newborn screening, clinical chemistry, microbiology, environmental chemistry, and emergency preparedness laboratories. These high-volume testing areas process 4,500 to 5,000 specimens per day. Dr. Tanksley’s focus has been on newborn screening program expansion and improvement, including implementation of evidence-based performance measures in the pre-analytical and post-analytical phases of screening. She chaired the APHL Newborn Screening and Genetics in Public Health Committee from 2011 to 2017, co-chaired the Newborn Screening Workgroup for the Mountain States Genetics Regional Collaborative Center from 2009 to 2015, has served on the Advisory Committee for Heritable Disorders in Newborns and Children (ACHDNC) as an organizational representative for APHL since 2013, and has served as a member of the Condition Review Workgroup for ACHDNC since 2012. She has been certified as a high complexity laboratory director through the American Board of Bioanalysis since 2005. She received her Ph.D. in genetics from Texas A&M University. 

Huda Y. Zoghbi, M.D., is an investigator at the Howard Hughes Medical Institute. She also is a professor of pediatrics, molecular and human genetics, neurology, and neuroscience and on the faculty of the Developmental Biology, Cell and Molecular Biology, and Translational Biology and Molecular Medicine Graduate Programs at Baylor College of Medicine in Houston. She is a specialist in the study of development and neurogenetics, and her work has encompassed many neurological disorders including the inherited degenerative balance disorders such as spinocerebellar ataxias and autism spectrum disorders such as Rett syndrome. Dr. Zoghbi’s lab also investigates key and basic developmental questions about neuronal differentiation and development of the auditory and proprioceptive sensory system. She received her B.S. from the American University of Beirut and her M.D. from Meharry Medical College and completed a postdoctoral fellowship at Baylor College of Medicine.

NIH Staff

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.

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. 

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