Working Group 2: Infrastructure and Mechanics

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 2 has been focusing on:

  • What infrastructure is required to disseminate gene-targeted therapies to individuals with rare diseases in need of treatment?


Working Group Members

Chair: Tom Defay, Ph.D., is the deputy head of diagnostics strategy and operations at Alexion Pharmaceuticals. He joined Alexion with the goal of shortening the diagnostic odyssey for patients with rare disease.  Through a collaboration with the Rady Children’s Institute for Genomic Medicine, he contributed to the Guinness World Record for achieving the fastest molecular diagnosis using whole genome sequencing in just 19.5 hours. That work was also honored with a RARE Champion of Hope award from Global Genes. Dr. Defay has more than 20 years of experience leading teams in drug discovery and development. Through his work as a project and portfolio leader, he has delivered numerous novel treatments to the clinic aimed at treating devastating neurological and psychiatric disorders. He also has led sections in bioinformatics, data science, genomics, and molecular sciences. He received his Ph.D. in biophysics from the University of California, San Francisco. 

Annemieke Aartsma-Rus, Ph.D., is a professor of translational genetics in the Department of Human Genetics at the Leiden University Medical Center. Her work focuses on developing antisense-mediated exon skipping as a therapy for Duchenne muscular dystrophy (DMD). This involves work in cell and animal models to improve the delivery and efficiency of exon-skipping compounds, studies in muscle regeneration and pathology, the identification of biomarkers, studying the basics of pre-mRNA splicing and transcript processing, and the generation of mouse models. In addition, in collaborative efforts she aims to develop the exon-skipping approach as a therapeutic option for other rare diseases and to bridge the gap between different stakeholders (patients, academics, regulators, and industry) involved in drug development for rare diseases. Dr. Aartsma-Rus is president of the Oligonucleotide Therapeutics Society and former chair of the TREAT-NMD executive committee. She has been selected as most influential scientist in DMD in the past 10 years annually by Expertscape based on contributions to the understanding and treatment of DMD since 2015. She has published more than 200 peer-reviewed papers and 9 book chapters; she has 15 patents and has edited 1 book. In 2011 she received the Duchenne Award from the Dutch Duchenne Parent Project in recognition of this work and her dedication to the Duchenne field. In 2020 she received the Black Pearl Science Award from EURORDIS and in 2021 she received the Ammodo Award. She received her Ph.D. from Leiden University Medical Center. 

Don Bailey, Ph.D., directs RTI’s new Center for Newborn Screening, Ethics, and Disability Studies, where he directs several projects funded by the National Institutes of Health on newborn screening and broader issues surrounding the ethical, legal, and social consequences of genetic discoveries and the disclosure of genetic information to families. He and his team have developed a partnership with the North Carolina State Laboratory of Public Health and have secured funds to help the newborn screening program conduct pilot studies and research. He also has developed a partnership with the Altino Ventura Foundation in Recife, Brazil, to develop a longitudinal study of children with congenital Zika syndrome and their families. He is internationally known as an expert on young children with disabilities and his research addresses early identification and early intervention for children with disabilities as well as family adaptation to disability. For 27 years, Dr. Bailey was on the faculty of the University of North Carolina at Chapel Hill where he was a W.R. Kenan, Jr., Distinguished Professor and, for 14 years, director of the Frank Porter Graham Child Development Institute. For 20 years, his work has focused on children with fragile X syndrome, the leading inherited cause of intellectual impairment, and their families. He has an extensive record of publications on a wide variety of topics related to newborn screening, early intervention, disability, and family support. He received his Ph.D. in early childhood special education from the University of Washington.

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 Gaviglio, M.S., CGC, is a certified genetic counselor and public health genetics consultant who has been working in the newborn screening arena for the past 13 years. She is currently a consultant with the Centers for Disease Control and Prevention, Association of Public Health Laboratories (APHL), and Expecting Health. She is co-chair of APHL’s New Disorders workgroup and is a member of several of APHL’s workgroups, including Short Term Follow-Up, Legal and Legislative Issues in Newborn Screening, and Health Information Technology. She also serves as the chair of the NBS Expert Panel for the Clinical and Laboratory Standards Institute, the chair of the Executive Committee for Minnesota’s Rare Disease Advisory Council, and a member of the Advisory Committee on Heritable Disorders in Newborns and Children’s Education and Training workgroup. 

Maria Kefalas, Ph.D., has been an advocate and champion for gene therapy research since 2013. Through her philanthropic work at The Calliope Joy Foundation and Cure MLD, she helped establish the nation’s first Leukodystrophy Center of Excellence at the Children’s Hospital of Philadelphia. She has spoken at the National Institutes of Health (NIH), the National Organization for Rare Disorders (NORD), and the Food and Drug Administration (FDA) and her work has been featured by the Chan Zuckerberg Initiative, Slate, STAT, and CBS Sunday Morning with Jane Pauley. Dr. Kefalas is the 2018 recipient of the NORD Rare Disease Impact Award and her memoir about her life caring for her daughter Cal, Harnessing Grief: A Mother's Quest for Meaning and Miracles, was published by Beacon Press in 2021. She received her Ph.D. in sociology from the University of Chicago.

Maarika Kimbrell, J.D., is the acting director of the Office of New Drug Policy in the Food and Drug Administration’s (FDA's) Office of New Drugs in the Center for Drug Evaluation and Research (CDER). Prior to joining the Office of New Drug Policy, she was the deputy chief of staff to Commissioner Gottlieb in the Office of the Commissioner. Prior to that role, Ms. Kimbrell served in a number of positions in the Office of Generic Drug Policy in CDER's Office of Generic Drugs. Prior to joining FDA, she was in private practice in law firms in Washington, DC, and San Francisco, representing clients in the life sciences industry in complex collaborations and other licensing and commercial agreements. She received her B.A. in molecular biology and biochemistry from Rutgers, the State University of New Jersey; her M.S. in genetics from Yale University; and her J.D. from the Yale Law School.

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. 

Andrew W. Lo, Ph.D., is the Charles E. and Susan T. Harris Professor at the MIT Sloan School of Management, director of MIT’s Laboratory for Financial Engineering, and principal investigator at MIT's Computer Science and Artificial Intelligence Laboratory. He also is a co-founder and director of BridgeBio Pharma, a director of Atomwise and Roivant Sciences, a co-founder and chairman of QLS Advisors, and a member of the advisory boards of the National Center for Advancing Translational Sciences (NCATS) and the American Cancer Society’s BrightEdge Impact Fund. Dr. Lo’s healthcare-related research interests include new financial engineering tools and business models for drug and device development and healthcare delivery, statistical methods for incorporating patient preferences into the drug approval process, predicting clinical trial outcomes via machine learning techniques, and novel funding and reimbursement models for creating a robust gene therapy ecosystem. His awards include Guggenheim and Sloan Fellowships, the Paul A. Samuelson Award, the Eugene Fama Prize, the IAFE-SunGard Financial Engineer of the Year, the Global Association of Risk Professionals Risk Manager of the Year, one of TIME’s “100 most influential people in the world,” and awards for teaching excellence from both Wharton and MIT. He received his B.A. in economics from Yale University and his A.M. and Ph.D. in economics from Harvard University. 

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, 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.

Mark Skinner, J.D., is the president and chief executive officer of the Institute for Policy Advancement Ltd, a firm specialized in patient-centered outcomes research. He also is an assistant professor in the Department of Health Research Methods, Evidence, and Impact at McMaster University and a senior consultant at the Workers Compensation Research Institute. He has led both national and international patient organizations including the World Federation of Hemophilia and National Hemophilia Foundation, where he currently serves on their Medical and Scientific Advisory Council. He is the principal investigator for the Patient Reported Outcomes Burdens and Experiences (PROBE) study, a global research project to enhance the direct patient voice in healthcare decision making. He holds numerous roles as an advisor on critical blood safety and supply matters, including having served on the U.S. Health and Human Services Advisory Committee on Blood and Tissue Safety and Availability. He serves on the board of the Institute for Clinical and Economic Review (ICER) and formerly served on the Patient Centered Outcomes Research Institute (PCORI) Advisory Panel on Rare Disease, where he was an inaugural member. Previously, he was the vice president of state programs at the American Insurance Association and administrative assistant/chief of staff to the Speaker of the Kansas House of Representatives. He holds degrees in public and business administration from Kansas State University, and he received his J.D. from Washburn University School of Law. 

Gerard Vockley, M.D., Ph.D., is a professor of pediatrics and Cleveland Family Endowed Chair in Pediatric Research at the University of Pittsburgh School of Medicine, a professor of human genetics at the Graduate School of Public Health, the chief of genetic and genomic medicine at the University of Pittsburgh Medical Center (UPMC) Children’s Hospital of Pittsburgh, and the director of the Center for Rare Disease Therapy at UPMCChildren’s Hospital of Pittsburgh. Previously he was chair of medical genetics at the Mayo Clinic School of Medicine. Dr. Vockley is internationally recognized as a leader in the field of inborn errors of metabolism. His lab has been responsible for identifying multiple new genetic disorders, many of them defects in mitochondrial energy metabolism, and he has published nearly 300 scientific articles in peer-reviewed journals. His current research focuses on the molecular architecture of mitochondrial energy metabolism, in which he is breaking new ground in describing the role of dysfunction of mitochondrial energy metabolism in such common conditions as diabetes, obesity, and Alzheimer disease. He also is a leader in the development and testing of novel therapeutic agents for treating inborn errors of metabolism. Dr. Vockley has served on numerous national and international scientific boards including the Advisory Committee (to the Secretary of Health and Human Services) on Heritable Disorders in Newborns and Children, where he was chair of the technology committee. He is past chair of the Pennsylvania State Newborn Screening Advisory Committee and the American College of Medical Genetics and Genomics Therapeutics Committee. He is also a volunteer medical advisor for several parent and family support groups. He received his undergraduate degree in biology from Carnegie-Mellon University and his M.D. and Ph.D. in genetics from the University of Pennsylvania School of Medicine. He completed his pediatric residency at the University of Colorado Health Science Center and his postdoctoral fellowship in human genetics and pediatrics at Yale University School of Medicine.

James M. Wilson, M.D., Ph.D., is a professor of internal medicine and pathology and laboratory medicine and the director of the Gene Therapy Program at the University of Pennsylvania’s Perelman School of Medicine, where he has led an effort to develop the field of gene therapy. His research career spanning over 40 years has focused on rare diseases and ways to treat them by gene therapy. Dr. Wilson has published more than 600 papers and is named on more than 200 patents worldwide. His lab identified a new type of vector based on novel isolates of adeno-associated viruses (AAV) that have become best in class for gene therapy. Currently, more than 80 preclinical and more than 40 clinical programs use Dr. Wilson’s AAV vectors. More recently his laboratory has focused on improved vectors for gene therapy and clinical applications of genome editing and mRNA therapy. He received his Ph.D. in biological chemistry from the University of Michigan and his M.D. from the University of Michigan Medical School.

Ekaterina Wright, M.D., Ph.D., M.B.A., is a senior medical director of rare diseases at the Takeda Pharmaceutical Company. She is an international healthcare expert with an in-depth understanding of the health-care ecosystem and of patients’ experience with rare diseases, extensive involvement in medical and clinical affairs, and clinical research focusing on rare disease therapies for more than 20 years. At Takeda Medical Affairs, she partners with the scientific and medical communities to enhance patients’ diagnosis and treatment journey and to support newborn screening initiatives for mucopolysaccharidosis type II (MPS II) and metachromatic leukodystrophy (MLD). Through her work as a global medical lead, Dr. Wright accelerated the research and development of innovative new therapies that treat rare genetic conditions and ensure optimal, personalized care for patients. She received her M.D. in internal medicine from Moscow Medical University, Russia; her Ph.D. in dermatology and STD from the Central Research Institute of Dermatology and STD of the Ministry of Health and Social Development; and her M.B.A from California State University.

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.

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. 

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.