Appendix B

Speaker Biographical Sketches

Ronald Bartek, M.A., is the co-founder and the president of Friedreich’s Ataxia Research Alliance, the chairman of the board of the National Organization for Rare Disorders, a 4-year member of the National Advisory Neurological Disorders and Stroke Council at the National Institutes of Health, and a former partner and president of a business and technology development, consulting, and government affairs firm. Mr. Bartek’s professional experience also includes 20 years of federal executive branch and legislative branch service in defense, foreign policy, and intelligence, including 6 years on the policy staff of the House Armed Services Committee; 4 years at the Department of State’s Bureau of Politico-Military Affairs, including 1 year as a negotiator on the U.S. Delegation to the Intermediate-Range Nuclear Forces Treaty talks in Geneva; 6 years as a Central Intelligence Agency analyst of political-military aspects of the East-West balance, including 1 year as an intelligence community representative to the inter-agency groups charged with U.S. arms control policy; and a former director of American Friends of the Czech Republic. Following graduation from the U.S. Military Academy at West Point, Mr. Bartek spent 4 years as an Army officer, serving as a company commander in Korea and an infantry and military intelligence officer in Vietnam. He has a master’s degree in Russian area studies from Georgetown University.

Mildred Cho, Ph.D., is a professor in the Division of Medical Genetics of the Department of Pediatrics and in the Division of Primary Care and Population Health of the Department of Medicine at Stanford University. She is also the associate director of the Stanford Center for Biomedical

Ethics and the director of the Center for Integration of Research on Genetics and Ethics. She received her B.S. in biology in 1984 from the Massachusetts Institute of Technology and her Ph.D. in 1992 from the Stanford University Department of Pharmacology. Dr. Cho’s major areas of interest are the ethical and social impacts of genetic research and its applications, including to precision medicine, gene therapy, the human microbiome, and synthetic biology. Her recent interests include the implications of applying data science, artificial intelligence, and mobile technologies to genomic and health data. She is a member of the Novel and Exceptional Technology and Research Advisory Committee of the National Institutes of Health.

David Chonzi, M.D., is the head of pharmacovigilance and epidemiology at Allogene Therapeutics, which is a clinical-stage biotechnology company pioneering the development of allogeneic chimeric antigen receptor T cell (CAR T) therapies for cancer. Prior to his role at Allogene Therapeutics, he was the global head of patient safety at Kite Pharma. He led the team that managed the safety profile for Yescarta, which is one of the first CAR T products to be approved by the Food and Drug Administration for treating advanced non-Hodgkin lymphoma. Dr. Chonzi spent 3 years at Roche-Genentech, where he led the patient safety team that was responsible for managing the safety profile for Tecentriq (anti-PDL-1) immune checkpoint. He holds an M.D. from the University of Zimbabwe as well as postgraduate qualifications in clinical pharmacology and epidemiology from the United Kingdom.

María José Contreras is from Chile. She is the mother of two boys affected by Duchenne muscular dystrophy: Franco (5 years old) and Julián (3 years old). In February 2019 she moved to the United States with her husband and sons to allow her son Franco to participate in a gene therapy clinical trial currently in development at Nationwide Children’s Hospital in Columbus, Ohio.

Richard Finkel, M.D., is the chief of the Division of Neurology at Nemours Children’s Hospital and a professor of neurology at the University of Central Florida College of Medicine in Orlando. He received his medical degree from the Washington University School of Medicine in St. Louis, Missouri, and completed his training in pediatrics, neurology, and neuromuscular medicine at Boston Children’s Hospital and Harvard Medical School. Dr. Finkel held positions at the Children’s Hospital Colorado and the Children’s Hospital of Philadelphia before assuming his current position in Orlando in 2012. His clinical practice and research interests have focused on pediatric neuromuscular disorders, especially spinal muscular atrophy, Duchenne muscular dystrophy, inherited neuropathies, and neurometabolic

disorders. Dr. Finkel has participated in numerous clinical trials, natural history studies, and the development of standard-of-care guidelines, and he has contributed to the development of outcome measures, clinical trial design, and biomarker identification for neuromuscular disorders. He has published more than 150 peer-reviewed manuscripts and book chapters. He is an associate editor of two neuromuscular journals and a co-editor of the current edition of Swaiman’s Pediatric Neurology textbook. Dr. Finkel has been recognized for his contributions to translational research in spinal muscular atrophy by receiving the Bengt Hagberg memorial lectureship in 2017 and the Sidney Carter Award in Child Neurology from the American Academy of Neurology in 2018, and he shared the Zulch Prize from the Max Plank Institute in 2019.

Courtney Fitzhugh, M.D., received her B.S. magna cum laude from the University of California, Los Angeles, in 1996, and her M.D. from the University of California, San Francisco, in 2001. During medical school Dr. Fitzhugh participated in the National Institutes of Health (NIH) clinical research training program, where she studied with Dr. John Tisdale at the National Heart, Lung, and Blood Institute (NHLBI). After receiving her M.D., Dr. Fitzhugh completed a joint residency in internal medicine and pediatrics at the Duke University Medical Center, and in 2005 she did a combined adult hematology and pediatric hematology–oncology fellowship at NIH and Johns Hopkins Hospital. Dr. Fitzhugh returned to NHLBI in 2007 and was appointed as the assistant clinical investigator in 2012 and the clinical tenure track investigator in 2016. She is a member of the American Society of Hematology.

Pat Furlong is the founding president and the chief executive officer of Parent Project Muscular Dystrophy (PPMD), the largest nonprofit organization in the United States solely focused on Duchenne muscular dystrophy (DMD). Its mission is to end DMD. It accelerates research, raises its voice in Washington, demands optimal care for all young men, and educates the global community. DMD is the most common fatal genetic childhood disorder, and it affects approximately 1 out of every 3,500 boys each year worldwide. It currently has no cure. When doctors diagnosed her two sons, Christopher and Patrick, with DMD in 1984, Ms. Furlong did not accept “There’s no hope and little help” as an answer. She immersed herself in DMD, working to understand the pathology of the disorder, the extent of research investment, and the mechanisms for optimal care. Her sons lost their battle with DMD in their teenage years, but she continues to fight—in their honor and for all families affected by DMD. In 1994 Ms. Furlong, together with other parents of young men with DMD, founded PPMD to change the course of DMD and, ultimately, to find a cure. Today, she

continues to lead the organization and is considered one of the foremost authorities on DMD in the world.

Katherine High, M.D., is currently the president and the head of research and development at Spark Therapeutics, a biotech company that she co-founded in 2013. Under Dr. High’s leadership, Spark received Food and Drug Administration approval of the first adeno-associated virus gene therapy product in the United States, a treatment for a rare form of congenital blindness. Dr. High was formerly a professor at the Perelman School of Medicine at the University of Pennsylvania, an investigator of the Howard Hughes Medical Institute, and the founding director of the Center for Cellular and Molecular Therapeutics at the Children’s Hospital of Philadelphia. An elected member of the National Academy of Medicine and the American Academy of Arts & Sciences, she has published more than 200 scientific papers and holds a number of patents related to gene therapy.

Julie Kanter, M.D., is a lifespan hematologist specializing in sickle cell disease. Dr. Kanter is the director of the adult sickle cell disease program and the co-director of the comprehensive sickle cell research center at the University of Alabama at Birmingham. Dr. Kanter is very committed to improving outcomes in sickle cell disease and ensuring those outcomes reach the affected individuals. She works closely with national partners including the American Society of Hematology and the National Institutes of Health on both advocacy and research. Dr. Kanter works on the development of novel therapeutics in sickle cell disease with expertise in clinical trial recruitment and trial design as well as in areas of improving access to care.

Petra Kaufmann, M.D., is the vice president of research and development translational medicine at AveXis. Prior to joining AveXis, Dr. Kaufmann was the director of the National Center for Advancing Translational Sciences (NCATS) Office of Rare Diseases Research at the National Institutes of Health, where her work included overseeing the Rare Diseases Clinical Research Network program, the Genetic and Rare Diseases Information Center, and the Toolkit for Patient-Focused Therapy Development. Before joining NCATS, Dr. Kaufmann was the director of the Office of Clinical Research at the National Institute of Neurological Disorders and Stroke, where she worked with investigators to plan and execute a large portfolio of clinical research studies and trials in neurological disorders. This was where she also launched the Network for Excellence in Neuroscience Clinical Trials, a trial network to support scientifically sound, biomarker-informed phase 2 trials for neurological diseases in partnership with academia, industry, and patient groups. Dr. Kaufmann has spent most of her career at

Columbia University in New York City, where she trained in neurology and was a tenured faculty member. Her research focused on observational studies and trials in mitochondrial diseases and neuromuscular diseases including spinal muscular atrophy and amyotrophic lateral sclerosis. Dr. Kaufmann has served on the scientific advisory boards of numerous national and international organizations, and her research has resulted in more than 120 publications. A native of Germany, Dr. Kaufmann earned her M.D. from the University of Bonn and her master’s degree in biostatistics from Columbia University’s Mailman School of Public Health. Dr. Kaufmann is board certified in neurology and neuromuscular medicine.

Jonathan Kimmelman, Ph.D., is the James McGill Professor of Biomedical Ethics at McGill University and directs the biomedical ethics unit as well as his own research group, STREAM (Studies in Translation, Ethics and Medicine). Dr. Kimmelman’s research centers on the ethical, policy, and scientific dimensions of clinical development. In addition to his book, Gene Transfer and the Ethics of First-in-Human Experiments (Cambridge Press, 2010), his major publications have appeared in Science, JAMA, BMJ, and Hastings Center Report. Dr. Kimmelman received the Maud Menten New Investigator Prize (2006), a Canadian Institutes of Health Research New Investigator Award (2008), and a Humboldt Bessel Award (2014), and he was elected a Hastings Center Fellow (2018). He has sat on various advisory bodies within the National Heart, Lung, and Blood Institute and the National Institute of Allergy and Infectious Diseases, served for four National Academies of Sciences, Engineering, and Medicine committees, and chaired the International Society of Stem Cell Research Guidelines for Stem Cell Research and Clinical Translation revision task force (2015–2016). His research has been covered in major media outlets, including NPR’s All Things Considered, STATNews, and Nature. Dr. Kimmelman is the deputy editor at Clinical Trials and serves as an associate editor at PLOS Biology.

Dwight Koeberl, M.D., Ph.D., attended Carleton College and the Mayo Medical School and Graduate School and then moved to the University of California, San Francisco, for his pediatrics residency. He completed fellowship training in clinical and biochemical genetics at the University of Washington before joining the Division of Medical Genetics in the Department of Pediatrics at Duke University in 1999. He was recruited to Duke by Dr. Y.-T. Chen, who developed enzyme replacement therapy that became the standard of care for Pompe disease. He serves as the medical director for the Pediatrics Biochemical Genetics Laboratory and sees patients in the metabolic clinic. At Duke his research has focused on the development of new therapy for inherited metabolic disorders, especially

for the glycogen storage diseases. He is currently developing drug and gene therapy for glycogen storage disease type I and type II; the latter is known as Pompe disease. In January 2019 he initiated a clinical trial of gene therapy for Pompe disease. His laboratory is developing gene editing with CRISPR for the glycogen storage diseases.

Larissa Lapteva, M.D., M.H.S., M.B.A., is the associate director in the Division of Clinical Evaluation, Pharmacology, and Toxicology in the Office of Tissues and Advanced Therapies of the Center for Biologics Evaluation and Research at the Food and Drug Administration (FDA). Since joining FDA in 2006, Dr. Lapteva has provided scientific and regulatory advice for clinical development programs with investigational new drugs, generic drugs, and biological products in various therapeutic areas, including products developed for the treatment of rare diseases. Dr. Lapteva is a practicing clinician and serves as faculty at the National Institute of Arthritis and Musculoskeletal and Skin Diseases at the National Institutes of Health, advancing the teaching mission of the institute for the next generation of physician-scientists. Dr. Lapteva received her degrees of master of health sciences from Duke University and master of business administration from the R.H. Smith School of Business.

Bob Levis, M.S., is a graduate of Grove City College (B.S., 1973) and the University of Illinois (M.S., 1975). His professional career includes 32 years with Air Products & Chemicals, Inc., including 22 years on overseas assignments in Brazil, Japan, Singapore, and Taiwan, where he was vice president and general manager of the company’s largest division in Asia. Following retirement from Air Products, Mr. Levis also worked for ABEC (bioreactor manufacturer) as the director of business development in Asia, and he now consults for Asia & Brazil Connections, LLC. Mr. Levis was diagnosed with chronic lymphocyctic leukemia (CLL) while on his executive business assignment in Singapore in 2002. Following several years of treatments through remissions and relapses, his CLL became more aggressive. Without any other treatment options, he enrolled as one of the early experimental chimeric antigen receptor T cell (CAR T) patients in 2013 at Penn Medicine in Philadelphia. The first CAR T procedure put his CLL into complete remission for 3.5 years. He had a second CAR T while on ibrutinib at Penn Medicine in 2017, and his CLL is now a minimum residual disease and stable on ibrutinib. In addition to his board commitment to the CLL Society, Mr. Levis is on the Abramson Cancer Center Director’s Leadership Council at Penn Medicine. He is also active with the biopharma industry and university research hospitals on patient advocacy initiatives and new CAR T science business development.

Albert Maguire, M.D., is a professor in the Department of Ophthalmology at the University of Pennsylvania Perelman School of Medicine, where he is a retina specialist and vitreo-retinal surgeon. He is also the attending physician for retina at the Children’s Hospital of Philadelphia. Dr. Maguire is most well known for developing and carrying out the surgical procedures that are now used in a large number of gene therapy clinical trials testing interventions for blindness. He is also known for directing the first phase 1–3 gene therapy clinical trials for congenital blindness, which demonstrated efficacy and safety in children and adults. Dr. Maguire was instrumental in all of the proof-of-concept studies that first showed that gene-based intervention of blindness was possible. Results from the clinical trials that he directed led to the first approved gene therapy drug for genetic disease worldwide and the first Food and Drug Administration–approved recombinant virus-based gene therapy product for a genetic disease. Dr. Maguire’s preclinical studies led to several gene therapy clinical trials other than the ones he directed. In the process he developed a gene therapy surgical training program that has certified retinal surgeons around the world for retinal gene therapy delivery. Dr. Maguire received a bachelor’s degree in psychology from Princeton University and an M.D. from Harvard Medical School, and he completed an internship in surgery at the Yale University School of Medicine, a residency in ophthalmology at the Wilmer Eye Institute, Johns Hopkins University School of Medicine, and a combined medical/surgical fellowship in retina at William Beaumont Hospital, Royal Oak, Michigan. While serving as the chief resident at the Wilmer Eye Institute, he was recruited to the University of Pennsylvania and the Children’s Hospital of Philadelphia. Dr. Maguire has received numerous awards, including the American Academy of Ophthalmology Achievement Award, the Paul Kayser International Award in Retina Research, the Association for Retinopathy of Prematurity and Related Diseases Award, the Retina Research Foundation Pyron Award, the Clinical Innovator Award (National Medical Association), and the Antonio Champalimaud Vision Award. Dr. Maguire has established a center for excellence in gene therapy at both the Children’s Hospital of Philadelphia and the University of Pennsylvania Perelman School of Medicine, where patients with bi-allelic congenital blindness due to RPE65 deficiency are now treated. He continues to run several other gene therapy clinical trials for blinding diseases. He is also co-director of the Center for Advanced Retinal and Ocular Therapeutics, a center that aims to develop treatments for a wide range of blinding diseases and to train the next generation of physician/scientists.

Bruce Marshall, M.D., is the senior vice president for clinical affairs at the Cystic Fibrosis Foundation. He joined the organization in 2002 and directs the clinically related activities of the foundation, including the care center

network, quality improvement, clinical practice guidelines, the patient registry, and educational resources. Dr. Marshall was a tenured faculty member at the University of Utah School of Medicine, where he served as the founding director of the adult cystic fibrosis program from 1989 to 2002. Dr. Marshall earned a bachelor of arts degree at Johns Hopkins University and his medical degree at the University of Maryland School of Medicine. He earned a master’s degree in medical management from Carnegie Mellon University.

Jennifer Puck, M.D., is a professor of immunology at University of California, San Francisco, where she cares for immunology patients and has a basic and translational research program focused on identifying genes and finding better treatments for severe combined immunodeficiency (SCID) and other rare human immune disorders. She has worked to develop newborn screening test for SCID, using T-cell receptor excision circles as a biomarker for T-cell development that can be measured in infant dried blood spots; this test has been adopted in all 50 states in the United States and in a growing number of countries. To study how outcomes can be improved for individuals affected with SCID and other single-gene immune disorders, Dr. Puck is the co-principal investigator of the Primary Immune Deficiency Treatment Consortium, a National Institutes of Health–funded network of 45 immunology and transplant centers in the United States and Canada. She is also working on clinical trials of lentivirus mediated gene therapy for X-linked SCID and Artemis-deficient SCID, the latter being a first-in-human trial.

Tejashri Purohit-Sheth, M.D., is currently the director of the Division of Clinical Evaluation and Pharmacology/Toxicology in the Office of Tissues and Advanced Therapies (OTAT) in the Center for Biologics Evaluation and Research at the Food and Drug Administration (FDA). She provides supervisory oversight for the clinical and pharmacology/toxicology review of submissions to OTAT. She previously served as the clinical deputy director in the Division of Anesthesiology, General Hospital, Respiratory, Infection Control and Dental Devices in the Office of Device Evaluation in the Center for Devices and Radiological Health at FDA as well as the acting division director and branch chief in the Office of Scientific Investigation in FDA’s Center for Drug Evaluation and Research (CDER) and as a medical officer in the Division of Pulmonary, Allergy, and Critical Care at CDER. She completed an internal medicine residency at the Naval Medical Center Portsmouth, followed by a fellowship in allergy/immunology at the Walter Reed Army Medical Center. Following the fellowship, she took over as the service chief of the allergy/immunology clinic at the National Naval Medical Center in Bethesda, Maryland. Following her end of her obligated

service as an active-duty naval officer, she transferred her commission to the U.S. Public Health Service and began her FDA career; currently she has served for 24 years as an active duty Uniformed Service officer.

Les Robison, Ph.D., received his Ph.D. in epidemiology from the University of Minnesota. He is currently the chair of the Department of Epidemiology and Cancer Control, the associate director of population sciences, and a co-leader of the Cancer Control and Survivorship Program within the Comprehensive Cancer Center at St. Jude Children’s Research Hospital in Memphis, Tennessee. As a pediatric epidemiologist, Dr. Robison has had a career-long focus of etiologic and clinical research within pediatric populations, particularly childhood malignancies. He has conducted large national epidemiologic studies of childhood cancer and for 20 years was the founding principal investigator of the Childhood Cancer Survivor Study (a multiinstitutional consortium evaluating a cohort of more than 40,000 5-year survivors of childhood cancer). Currently he is a co-principal investigator (with Dr. Melissa Hudson) of the St. Jude Lifetime Cohort Study (a clinical cohort of more than 8,000 survivors of childhood cancer treated at St. Jude). He holds current positions on numerous national committees, task forces, councils, and advisory boards in the fields of epidemiology, etiology, pediatric oncology, and cancer survivorship. Dr. Robison is the author of more than 700 original papers published in peer-reviewed journals.

Tesha Samuels is a patient who enrolled in Autologous Gene Therapy Transplant, a clinical trial at the National Institutes of Health (NIH), in 2017. Subsequently she received the transplant in March 2018. Since that time Ms. Samuels has returned to her full-time job with the District of Columbia city government, and because of the positive outcome with her clinical trial she dedicates part of her time to being an advocate for sickle cell research and clinical trial participation. Within the past year she has shared her story on several panels concerning sickle cell disease and clinical trials such as Rare Disease Day at NIH, the Howard University Cure Sickle Cell Symposium, and the Rare Disease Legislative Advocates congressional caucus briefing. Most recently she spoke to the House subcommittee on labor, health and human services, education, and related agencies.

John Tisdale, M.D., received his medical degree from the Medical University of South Carolina in Charleston after obtaining his B.A. in chemistry from the College of Charleston. He completed an internal medicine and chief residency at the Vanderbilt University Medical Center in Nashville and then trained in hematology in the Hematology Branch of the National Heart, Lung, and Blood Institute (NHLBI), where he served as a postdoc-

toral fellow. He joined the Molecular and Clinical Hematology Branch of NHLBI in 1998 and is now the chief of the Cellular and Molecular Therapeutics Branch. In 2011 the College of Charleston recognized Dr. Tisdale with the Alumni of the Year Award and the Pre-Medical Society’s Outstanding Service Award in Medicine. He was recently elected to the American Society for Clinical Investigation and is a member of the American Society of Hematology. Dr. Tisdale’s research and clinical work center on sickle cell disease. His group focuses on developing curative strategies for sickle cell disease through transplantation of allogeneic or genetically modified autologous bone marrow stem cells.