Speakers

Christopher P. Austin, M.D., has served as director of the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH) since 2012. Prior to this role, he was NCATS’ scientific director, focusing on translating basic science discoveries into new treatments and technologies to improve the efficiency of therapeutic/diagnostic development. He founded several initiatives, including the NIH Chemical Genomics Center, the Therapeutics for Rare and Neglected Diseases Program, and the Toxicology in the 21st Century Program. Before joining NIH in 2002, Dr. Austin led genomic-based target discovery, pharmacogenomic, and neuropsychiatric drug-development programs at Merck. From 2016 to 2018, he served as chair of the International Rare Disease Research Consortium (IRDiRC). He also is a member of National Academy of Medicine. He earned an A.B. from Princeton University and an M.D. from Harvard Medical School and completed training in internal medicine and neurology at Massachusetts General Hospital.

Sonja Best, Ph.D., is the chief of the Innate Immunity and Pathogenesis Section at the Rocky Mountain Laboratories (RML) campus of the National Institutes of Health’s (NIH’s) National Institute of Allergy and Infectious Diseases (NIAID). Her laboratory studies the induction and evasion of innate immunity by highly pathogenic RNA viruses, with a focus on flaviviruses and filoviruses, utilizing the newly built BSL4 laboratories. She serves on the editorial review boards of Science Translational Medicine, PLoS Pathogens, and the Journal of Virology, among others. Dr. Best was awarded a Presidential Early Career Award for Scientists and Engineers (PECASE). She received her Ph.D. in biochemistry and molecular biology from the Australian National University (ANU), where she studied poxvirus pathogenesis, and conducted her postdoctoral research at RML, where she studied innate immune evasion by flaviviruses.

Michael R. Betts, Ph.D., is a professor in the Department of Microbiology at the University of Pennsylvania’s Perelman School of Medicine. The goal of his scientific research is to gain an understanding of the nature of T-cell immune responses to pathogens and auto-antigens in humans. Toward this end, his lab has developed and adapted many immunological assays for the study of viral-specific immune responses in humans, including intracellular cytokine staining, CTL epitope mapping, CD8+ T-cell degranulation measurement, and polyfunctional flow cytometry that are broadly used by the global human immunology research community. Dr. Betts transitioned his lab to the study of human and nonhuman primate lymphoid tissues and fluids, including various regional lymph nodes, spleen, thoracic duct lymph fluid, and oral lymphoid tissues in the context of HIV infection, vaccination, diabetes, and multicentric Castleman disease. This research has allowed them to begin to dissect the mechanisms that control CD8+ T-cell effector function in human and nonhuman primates using a combination of cellular and molecular immunology, including the characterization of CD8 effector lineage-defining transcription factors, factors controlling expression and function of CD8+ T cells; transcriptional analysis of CD8+ T cells, tissue-resident memory T-cell responses, and in vivo assessments of T-cell dynamics in nonhuman primates. He received his Ph.D. in microbiology and immunobiology from the University of North Carolina at Chapel Hill.  

Diana X. Bharucha-Goebel, M.D., is a clinical research collaborator at the National Institutes of Health’s (NIH’s) National Institute of Neurological Disorders and Stroke (NINDS). She also is an assistant professor of neurology at Children’s National Hospital. She received her M.D. from Drexel University and completed the residency program in general pediatrics, the residency program in child neurology, and the fellowship program in neurology and neuromuscular medicine at the Children’s Hospital of Philadelphia.

Michael Binks, M.D., is vice president of clinical research in the Rare Diseases Research Unit at Pfizer, which is focused on rare hematology, rare neuromuscular and neurological, and rare endocrine/metabolic diseases. His duties include management of a clinical research group of talented M.D.s, M.D./Ph.D.s, and non-M.D. clinicians responsible for clinical development plans, clinical study design, and medical oversight and governance of clinical programs. He also is the research project leader for the Duchenne Muscular Dystrophy Gene Therapy Program. Previously he was head of translational medicine at GlaxoSmithKline, an honorary clinical fellow in the Department of Neurology at Addenbrookes Hospital, a visiting rheumatologist at the Royal Free Hampstead NHS Trust, and a senior registrar in rheumatology at University College London. He received his MBBS in medicine from University College London.

Carsten Bönnemann, M.D., is a senior investigator and chief of the Neuromuscular and Neurogenetic Disorders of Childhood Section in the National Institutes of Health’s (NIH’s) Neurogenetics Branch of the National Institute of Neurological Disorders and Stroke (NINDS). Clinical, genomic, and translational work in the Section centers in particular around early onset neuromuscular disorders such as the congenital myopathies and congenital muscular dystrophies and on the development of molecular and gene-directed treatment approaches to these conditions, including first-in-human intrathecal and intravenous AAV-mediated gene transfer trials. He also is an adjunct full professor of neurology at the University of Pennsylvania School of Medicine. He is co-editor-in-chief of the Journal of Neuromuscular Diseases and has authored more than 300 papers, reviews, and chapters in the field of pediatric neuromuscular and neurogenetic disorders. Previously he was co-director of the Neuromuscular Program and director of the Pediatric Neurogenetics Clinic at Children’s Hospital of Philadelphia/University of Pennsylvania School of Medicine. Dr. Bönnemann was a Pew Fellow in the Biomedical Sciences and received the Derek Denny-Brown Neurological Scholar Award from the American Neurological Association. He graduated from medical school at the University of Freiburg in Germany. He trained in pediatrics in Hamburg and Göttingen, where he was awarded the habilitation/venia legendi in pediatrics, and in neurology/child neurology at Massachusetts General Hospital/Harvard Medical School in Boston. He did postdoctoral research in genetics and neuromuscular specialty training at Boston Children’s Hospital/Harvard Medical School.  

Barry J. Byrne, M.D., Ph.D., is the associate chair of pediatrics, the director of the University of Florida Powell Gene Therapy Center and Child Health Research Institute, and the Earl and Christy Powell University Chair in Genetics. He is a clinician-scientist who is studying a variety of rare diseases with the specific goal of developing therapies for inherited muscle disease. As a pediatric cardiologist, his focus is on conditions that lead to skeletal muscle weakness and abnormalities in heart and respiratory function. His group has made significant contributions to the understanding and treatment of Pompe disease, a type of neuromuscular disease due to glycogen storage in motor units. The research team has been developing new therapies using AAV-mediated gene therapy to restore cardiac and skeletal muscle function in Duchenne muscular dystrophy (DMD), Friedreich’s ataxia, Pompe disease, and other inherited neuromuscular diseases. His group at the Powell Center also has established a series of new methods for large-scale AAV clinical manufacturing. The work is supported by several National Institutes of Health (NIH) and foundation awards. He received his M.D. and Ph.D. in medicine from the University of Illinois at Chicago.

Roberto Calcedo, Ph.D., is the Vice President of Preclinical and Immunology at Affinia Therapeutics, where he oversees the in vivo activities of the company focused on engineering the next generation of AAV vectors. He is a member of the scientific board of the journal Human Gene Therapy and a member of the Immune Response to Gene and Cell Therapy Committee. Previously he worked as the Senior Director of the Immunology Core at the University of Pennsylvania Gene Therapy Program under Dr. James M. Wilson, overseeing research focused on understanding humoral and cellular immune responses to viral and nonviral vectors in animal models and in patients enrolled in clinical trials. Dr. Calcedo has been working in gene therapy since 2001 and was instrumental in the discovery of a new family of AAV vectors including AAV8, AAV9, and AAVrh10. He is the author of more than 70 peer-reviewed scientific publications. He received his PhD in biology from the University of Basque Country, Spain.

Sarah Cramer, D.V.M., DACVP, Ph.D., works with multiple groups at StageBio to help design and interpret studies utilizing AAV for neurological indications. StageBio was Tox Path Specialists, a contract research organization founded by Mark Butt and dedicated to offering specialized nonclinical neuropathology evaluations. This focus continued as Tox Path Specialists joined StageBio. She received her B.A. in biology from St. Mary’s College of Maryland and her D.V.M. from Cornell College of Veterinary Medicine. She completed a residency in veterinary anatomic pathology at Oklahoma State University and then joined the NIH Comparative Biomedical Scientist Training Program and the University of Maryland, where she completed dissertation research in the lab of Scott Durum.

Pat Furlong, B.S.N., is the founding president and chief executive officer of Parent Project Muscular Dystrophy (PPMD), the largest nonprofit organization in the United States solely focused on Duchenne muscular dystrophy (DMD), the most common fatal, genetic childhood disorder that affects approximately 1 out of every 4,600 boys each year worldwide. Their mission is to end DMD. They accelerate research, raise their voices in Washington, demand optimal care for all young men, and educate the global community. When doctors diagnosed her two sons, Christopher and Patrick, with DMD in 1984, she didn’t 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 in their teenage years, but she continues to fight—in their honor and for all families affected by DMD. In 1994, Ms. Furlong and 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. She speaks about DMD and related topics at conferences each year, is an active board member with the National Organization for Rare Disorders (NORD), serves on the data safety monitoring board for the Rare Diseases Clinical Research Network and Cooperative International Neuromuscular Research Group, and has served on the Board of Genetic Alliance and the Muscular Dystrophy Coordinating Committee of the U.S. Department of Health and Human Services. She received her B.S.N. in nursing from Mt. St. Joseph College and attended graduate school at Ohio State University.

Guangping Gao, Ph.D., is the co-director of the Li Weibo Institute for Rare Diseases Research, the director of the Horae Gene Therapy Center and Viral Vector Core, professor of microbiology and physiological systems, and Penelope Booth Rockwell Professor in Biomedical Research at the University of Massachusetts Medical School. He is an elected fellow of the U.S. National Academy of Inventors (NAI) and American Academy of Microbiology. He serves as executive editor-in-chief of Human Gene Therapy, senior editor of the Gene and Cell Therapy book series, associate editor of Signal Transduction and Targeted Therapy, and on the editorial boards of several other gene therapy and virology journals. Dr. Gao is an internationally recognized gene therapy researcher who has played a key role in the discovery and characterization of a new family of adeno-associated virus (AAV) serotypes, which was instrumental in reviving the gene therapy field and hugely impacted many currently untreatable human diseases. For 30 years of his scientific research career, he has focused primarily on molecular genetics and viral vector gene therapy of rare genetic diseases, encompassing disease gene cloning, causative mutation identification, pathomechanism investigation, animal modeling, novel viral vector discovery, and engineering for in vivo gene delivery, vector biology, preclinical and clinical gene therapy product development, viral vector manufacturing for preclinical and clinical gene therapy applications, and technology platforms development as novel approaches for human gene therapy. Dr. Gao co-founded Voyager Therapeutics, Adrenas Therapeutics, and Aspa Therapeutics, focusing on developing rAAV gene therapeutics for treating a variety of devastating rare diseases. He received his Ph.D. from Florida International University.

Lindsey George, M.D., is an assistant professor of pediatrics at the Perelman School of Medicine at the University of Pennsylvania and attending physician in the Division of Hematology at the Children’s Hospital of Philadelphia. Her laboratory studies the molecular and cellular basis of coagulation. Specifically, her work focuses on the intrinsic tenase enzyme complex with the central concept that understanding biochemical mechanisms that regulate intrinsic tenase function may improve understanding of associated disease states of deficiency (hemophilia A or B) or excess function (thrombosis) to permit the development of novel therapeutics, namely gene-based therapies. Dr. George also is the clinical principal investigator of ongoing, early phase, adeno-associated virus (AAV)-mediated FVIII and FIX gene transfer trials for hemophilia A and B, respectively. She is involved in national and international efforts to safely and efficiently implement gene-based therapies into hemophilia care as well as to organize an international registry to follow hemophilia gene therapy patients pre and post licensure. She received her M.D. from the State University at Buffalo School of Medicine and Biological Sciences. 

Soumi Gupta, Ph.D., is a senior director and head of immunogenicity at BioMarin Pharmaceutical Inc. Her duties include leading the Immunogenicity Assessment Group, which oversees the immunogenicity assessment strategy for all the biologics throughout the clinical development cycle of the product. Previously Dr. Gupta worked at Monogram Biosciences as a scientist in research and development, developing assays to characterize genotypic and phenotypic resistance to HIV antivirals. She received her Ph.D. in microbiology from the University of California, Davis, where the focus of her research was furthering our understanding of the immune correlates of protection toward a successful AIDS vaccine. She pursued postdoctoral training in immunology at Chiron Corporation, where she investigated anti-HIV T and B cell-mediated responses following mucosal immunization with alphavirus-based replicon particles.

Roland W. Herzog, Ph.D., is Riley Children's Foundation Professor of Immunology and the Director of the Gene and Cell Therapy Program at The Herman B Wells Center for Pediatric Research at Indiana University. He also serves as editor-in-chief of Molecular Therapy. Dr. Herzog’s work is supported by multiple grants from the National Institutes of Health. His research team develops AAV-based gene therapies and immune tolerance protocols for hemophilia and defines immune response mechanisms to AAV gene therapy vectors and to therapeutic proteins used in replacement therapy for genetic disease. Dr. Herzog received multiple awards for his research from the American Society of Gene and Cell Therapy, the National Hemophilia Foundation, the Bayer Hemophilia Program, and the University of Florida Research Foundation, among others. Previously he had faculty appointments at the University of Pennsylvania and the University of Florida. Dr. Herzog received multiple awards for his research, including from the American Society of Gene and Cell Therapy and the National Hemophilia Foundation.  He received his Ph.D. in microbiology from Auburn University and received postdoctoral training at the Children’s Hospital of Philadelphia. 

Juliette Hordeaux, D.V.M., Ph.D., DECVP, is the senior director of the Translational Research Gene Therapy Program (GTP) at the University of Pennsylvania Perelman School of Medicine, where she leads a team of research directors, investigators, and specialists developing cutting-edge AAV gene therapies for lysosomal storage disorders. She works with internal core facilities and external industry partners to collect quality and focused preclinical data for regulatory submissions. Her team also investigates AAV-mediated toxicity and ways to develop safer gene therapy modalities. She oversees the GTP Morphology and Pathology Core that supports research and discovery activities and good laboratory practice (GLP)-compliant toxicology studies. Dr. Hordeaux authored 20 peer-reviewed articles and more than 20 meetings communications and is co-inventor on several patent applications. She serves as a peer reviewer for several journals, including Human Molecular Genetics, Human Gene Therapy Clinical Development, the Journal of Veterinary Internal Medicine, and PLOS One. She received her D.V.M, from Ecole nationale vétérinaire de Nantes and her Ph.D. in medicine, biology, and health from the University of Nantes and is European board certified in veterinary pathology. 

Petra Kaufmann, M.D., is the senior vice president of Clinical Development, Analytics, and Translational Medicine at Novartis Gene Therapies, where she leads efforts to translate promising pipeline candidates into proven therapies for rare genetic diseases. Before she joined Novartis Gene Therapies, she held several leadership positions at the National Institutes of Health (NIH), most recently directing the Office of Rare Diseases Research (ORDR). Prior to that, Dr. Kaufmann directed the Division of Clinical Innovation at the National Center for Advancing Translational Sciences (NCATS) and Clinical Research at the National Institute of Neurological Disorders and Stroke (NINDS), including a detail assignment to the Division of Neurology Products at the Food and Drug Administration’s (FDA’s) Center for Drug Evaluation and Research (CDER). Dr. Kaufmann has spent most of her career at Columbia University in New York City where she completed her clinical training in neurology and clinical electrophysiology and became a tenured faculty member with research focus on rare diseases. She has served on scientific advisory boards of national and international organizations and her research has resulted in more than 130 publications. She is an experienced physician-scientist and rare disease expert who has dedicated her career to serving patients with rare diseases and to developing innovative and transformative therapies. Her experience includes laboratory-based research, clinical research, and clinical trial design and implementation. She holds an M.D. and a doctorate in biomedical studies in muscle diseases from the University of Bonn and an M.S. in biostatistics and patient-oriented research from Columbia University.   

Annie Kennedy is Chief of Policy and Advocacy at the EveryLife Foundation for Rare Diseases, which is 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. Current areas of emphasis include leading the national Burden of Rare Disease Study, 21st Century Cures Act and Prescription Drug User Fee Act (PDUFA) VII engagement, national newborn screening program engagement, and state Recommended Uniform Screening Panel (RUSP) alignment legislation and innovating around therapy valuation and access issues. Ms. Kennedy 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); the Patient Focused Impact Assessment Act (PFIA), which became the Patient Experience Data provision within the 21st Century Cures Act (sec 3001); and engagement with the Food and Drug Administration and industry around regulatory policy and therapeutic pipelines. In addition, she led access efforts as the first therapies were approved for Duchenne and engaged with the Institute for Clinical and Economic Review (ICER) around 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 PFDD Works coalition, the Steering Committee of the Patient Driven Values in Healthcare Evaluation, Cures for Life, the FasterCures Patient Exchange Working Group, the National Health Council’s PCORI Valuation Group, and the National Health Council’s Medical Innovation Action Team. She also recently served as a Design Team member of the National Center for Advancing Translational Sciences/Office of Rare Diseases Research (NCATS/ORDR) Tool Kit Project.

Kei Kishimoto, Ph.D., is the Chief Scientific Officer of Selecta Biosciences, a biotechnology company developing a novel technology to induce immune tolerance. Prior to joining Selecta, he was Vice President of Research at Momenta Pharmaceuticals, where he led multidisciplinary teams in inflammation, oncology, and cardiovascular disease. Previously he was Senior Director of Inflammation Research at Millennium Pharmaceuticals, where he provided the scientific leadership for four programs in clinical development, and an Associate Director of Immunology at Boehringer Ingelheim. He received his Ph.D. in immunology from Harvard University and his postdoctoral training at Stanford University. 

Prof. Dr. Percy Knolle is the director of the Institute of Molecular Immunology and Experimental Oncology at the University Hospital München rechts der Isar of the Technical University Munich, Germany. Previously he was a research group leader at the Center of Molecular Biology; a full professor at the University of Bonn, where he founded the Institute of Molecular Medicine and Experimental Immunology; and a full professor in the Faculty of Medicine and the Faculty of Natural Sciences at the Science Campus Weihenstephan, Technical University of Munich. His research interests are local regulation of immune responses in the liver and immune tolerance. Prof. Knolle studied medicine in Germany, France, and England and trained to become a specialist in internal medicine at the University of Mainz.  

Arthur M. Krieg, M.D., is the chief scientific officer (CSO) of Checkmate Pharmaceuticals, which he founded to develop novel oligonucleotides for cancer immunotherapy. He also is a professor at the University of Massachusetts RNA Therapeutics Institute, and he serves on the scientific advisory boards of several companies developing oligonucleotide therapeutics. Previous positions include CSO at Sarepta, co-founder and chief executive officer (CEO) at RaNA Therapeutics, CSO of Pfizer’s Oligonucleotide Therapeutics Unit, and co-founder and CSO of Coley Pharmaceutical Group until its acquisition and incorporation into Pfizer. He was a staff fellow at the NIH and then became a professor of internal medicine in the Division of Rheumatology at the University of Iowa. He has had 19 years of patient care experience, although his focus has always been on basic research and teaching. He discovered the immune stimulatory CpG DNA motif in 1994, which led to a new approach to immunotherapy and vaccine adjuvants. Based on this technology he co-founded Coley Pharmaceutical Group, discovering and taking 4 novel oligonucleotides into clinical development, including the anthrax vaccine adjuvant CpG 7909 in AV7909 (NuThrax®). Dr. Krieg co-founded the first antisense journal, Nucleic Acid Therapeutics, which he edited for 16 years, and the Oligonucleotide Therapeutics Society, for which he recently served as president. He has published more than 250 scientific papers and is an inventor on more than 50 issued U.S. patents covering oligonucleotide technologies. He graduated from Haverford College, received his M.D. from Washington University, and completed a residency in internal medicine at the University of Minnesota.

Brian Long, Ph.D., is an associate director in Translational Sciences and Immunogenicity Assessment at BioMarin Pharmaceutical, a biotechnology company focused on developing first-in-class and best-in-class therapeutics that provide meaningful advances to patients who live with serious and life-threatening rare genetic diseases. He provides immunologic expertise to drug programs across developmental stages and develops immunogenicity and safety strategies for novel biologic therapeutics, most recently focusing on AAV-mediated gene therapies. Previously he was a research scientist in the Division of Experimental Medicine at the University of California, San Francisco (UCSF), where he worked on the development and standardization of humanized mouse models for the evaluation of HIV immunology, therapeutics, and drug discovery. Dr. Long has more than 20 years of experience in immunology and infectious disease, autoimmunity, cell signaling, cancer biology, and drug development. He received his Ph.D. in microbiology and immunology from the University of North Carolina, Chapel Hill and pursued postdoctoral training at the Gladstone Institutes of Virology and Immunology and UCSF, where he investigated the role of innate immunity in HIV disease pathogenesis.

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). He joined the FDA in 2012 as Deputy Center Director for CBER and became Center Director in January 2016. Dr. Marks has worked in academic settings teaching and caring for patients and in industry on drug development. 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 training at Brigham and Women’s Hospital in Boston.

David Markusic, Ph.D., is an assistant research professor of pediatrics at Indiana University School of Medicine. He has more than 10 years of research experience optimizing liver gene delivery in murine and canine disease models using different viral vector systems. He has successfully obtained competitive funding from the National Institutes of Health (NIH), Bayer Hemophilia Awards Program, and Pfizer Aspire Hemophilia Awards to work on optimizing adeno-associated virus liver gene delivery in murine and canine hemophilia B animal disease models, to elucidate the mechanism of tolerance induction with pre-existing immunity, to model and minimize detrimental anti-vector immune responses, to define minimally effective vector doses, and to assess the risks of administering suboptimal vector doses. Dr. Markusic’s research has made vital contributions to advancing liver-directed AAV gene therapy as a novel approach for reversing pre-existing antibody responses in enzyme replacement therapies. His work has been published in the leading journals of hemophilia and gene therapy. He received his Ph.D. from the University of Amsterdam.

Federico Mingozzi, Ph.D., is the chief scientific officer at Spark Therapeutics, bringing two decades of experience in gene therapy, immunology, and biochemistry and molecular biology in both industry and academic settings. He also is the at-large director on the ASGCT board of directors. He began his scientific career studying the genetic basis of bleeding disorders. At the Children’s Hospital of Philadelphia (CHOP) he conducted pioneering studies on liver gene transfer with adeno-associated virus (AAV) vectors and immunology. He was involved in several first-in-human clinical studies of gene therapy based on the AAV vector platform while serving as the director of translational research at the Center for Cellular and Molecular Therapeutics at CHOP. He also led studies aimed at the characterization of human immune responses to AAV vectors and the development of strategies to modulate vector immunogenicity. Dr. Mingozzi then joined the French National Institute of Health and Medical Research (INSERM) as research director and Genethon, a leading French nonprofit research and development organization focused on gene therapy for rare diseases, as team leader. There, he spearheaded the development of in vivo gene therapies for inherited diseases. His work continued to focus on the characterization of human immune responses to AAV vectors and on the development of strategies to overcome immune responses in gene transfer. He also was on the faculty at the Pierre and Marie Curie University in Paris, France, and Universitat Autonoma de Barcelona, Spain. Throughout his distinguished career, he has received several awards and has contributed to the field of gene therapy with more than 100 scientific publications, including seminal findings in the field of AAV gene therapy. He received his bachelor’s degree in biology and his Ph.D. in biochemistry and molecular biology from the University of Ferrara in Italy and his M.B.A. from Drexel University. 

Christian Mueller, Ph.D., is the global head of genomic medicine at Sanofi Genzyme and the scientific founder and a board member of Apic Bio. Previously he was a tenured faculty member at the University of Massachusetts Medical Center, where he had a distinguished academic research career, establishing himself as a thought leader in gene therapy and working on novel vector platforms, gene and base editing approaches, and mechanisms of gene silencing in the central nervous system (CNS). He has worked on translating AAV-mediated gene therapies to the clinic in alpha-1 antitrypsin deficiency (AATD), Huntington’s disease, and amyotrophic lateral sclerosis (ALS). Notably he was the first to describe a regulatory T-cell response to the AAV capsid in patients and the first to translate AAV-mediated RNAi into SOD1 ALS patients. He is the recipient of many honors and awards for his research, including the Bettina Irvine Family Award for Excellence in Alpha-1 Research and the ALS Angel Fund Angel Award.?In 2017, he was honored by the Boston Patent Law Association for holding one of the top 12 patents in Massachusetts for inventing dual-function AAV vectors with a silence and replace modality. He received his Ph.D. in genetics from the University of Florida and his M.Sc. in clinical investigation from the University of Massachusetts as a Parker B. Francis Fellow.

Cara O’Neill, M.D., is the chief science officer at Cure Sanfilippo Foundation, a pediatrician, and mother to a daughter with the rare disease Sanfilippo syndrome (MPS III). She has practiced general pediatrics in both private practice and academic settings. During her tenure as an assistant professor of clinical pediatrics at the University of South Carolina, she helped train medical students and residents and held her primary practice in a clinic specializing in the care of children with special needs. These uniquely paired career and life experiences allow her to bridge gaps between scientists, clinicians, industry, and families. Dr. O’Neill enjoys collaborations throughout the rare disease space to advance patient-centered research and translational paths forward for critically needed treatments. Some of these include consultation on patient-centered outcomes and patient experience logistics in clinical trial design, development of novel caregiver reported outcome on gastrointestinal disease manifestations, co-development of the first video outcome study in MPS III, and co-development of physician education activities to promote earlier diagnosis. She was honored with the 2020 Patient Advocate Leader Award at the WORLDSymposium lysosomal disease research conference. Cara and her husband Glenn founded Cure Sanfilippo Foundation in 2013 after their daughter’s diagnosis with MPS IIIA. They continue to work with organizations and experts around the world to accelerate the pace of drug development for children with Sanfilippo syndrome. She received her M.D. from West Virginia University School of Medicine.

Glenn O’Neill is the father of Eliza O’Neill, who was diagnosed in 2013 with Sanfilippo syndrome (MPS III), and the co-founder and president of the 501c3 nonprofit Cure Sanfilippo Foundation, with a mission to advocate and fund research for treatments or a cure for all Sanfilippo syndrome children. In 7 years, the Foundation has grown to include more than 90 families of children with Sanfilippo syndrome. This team approach has raised more than 10 million dollars for research and generated assets of more than 16 million dollars to support Cure Sanfilippo Foundation’s mission. The Foundation has helped fund 28 grants around the world, which have led to 3 clinical trials now under way. Mr. O’Neill has spoken in various forums and conferences, including National Organization of Rare Disorders (NORD), National MPS Society, Rare Genomics Institute, and PRIMR Advancing Ethical Research. He was the 2017 Sanofi Genzyme Torch Award winner and received the 2017 GoFundMe Trailblazer Award. In recognition of their work at the Foundation and in the area of rare disease, Glenn and his wife Cara were awarded the Portraits of Courage Honor by NORD in 2015 and the South Carolina Child Advocate Award from the SC American Academy of Pediatrics in 2017. Despite having a child with a devastating degenerative and terminal brain disease, he believes the Cure Sanfilippo mission will be achieved through kindness, humility, transparency, inspiration, and determination and has found that collaboration with like-minded people and organizations is the key to success. You can learn more about the Cure Sanfilippo Foundation at www.curesanfilippofoundation.org.

Anne Pariser, M.D., is the director of the Office of Rare Diseases Research (ORDR) at the National Institute of Health’s (NIH’s) National Center for Advancing Translational Sciences (NCATS). The ORDR is dedicated to accelerating rare diseases research to benefit patients through rare diseases programs such as the Rare Diseases Clinical Research Network, Genetic and Rare Diseases (GARD) Information Center and the NCATS Toolkit for Patient-Focused Therapy Development. Important translational science research initiatives for rare diseases at ORDR include establishing best practices and tools for good quality natural history studies, data standards and sharing initiatives, the development of diagnostic support tools, rare diseases therapeutics development and translational and basic science research grants and collaborative programs. Dr. Pariser came to NCATS in 2017; before this, she worked for 16 years at the Food and Drug Administration (FDA) Center for Drug Evaluation and Research (CDER), where she founded the Rare Diseases Program in CDER’s Office of New Drugs in 2010 and served as a medical officer and team leader for rare diseases drug and biologics product development, review and regulation. She has 20 years of experience in rare diseases research, and her current research interests include “many diseases at a time” research approaches such as platforms for gene therapies and other rare disease product development and informatics approaches for diagnosis. She received her M.D. from Georgetown University School of Medicine.

Nicole Paulk, Ph.D., is an Assistant Professor of AAV Gene Therapy in the Department of Biochemistry and Biophysics at the University of California, San Francisco (UCSF). She is a pioneer in the development of next-generation AAV gene delivery platforms and has engineered payloads for gene repair and gene transfer for numerous rare diseases, utilized directed evolution to evolve capsid serotypes with novel tropisms, and applied comparative proteomic and epigenomic approaches to interrogate challenges in vector manufacturing. Dr. Paulk’s translational research lab at UCSF develops solutions for the biggest problems in gene therapy: cost, delivery, and efficacy, with a focus on treatments for rare diseases and cancer. She received her B.S. in medical microbiology from Central Washington University and her Ph.D. in AAV gene therapy and regenerative hepatology from Oregon Health and Science University with Dr. Markus Grompe and completed her postdoctoral fellowship in human gene therapy with Dr. Mark Kay at Stanford University.

Louise Rodino-Klapac, Ph.D., is the senior vice president of gene therapy at Sarepta Therapeutics. She is renowned for her work in molecular genetics and gene therapy. She is the inventor of 5 of Sarepta’s limb-girdle muscular dystrophy programs, which are part of Sarepta’s gene therapy engine approach to treating multiple genetic diseases. Overall, her work has led to 11 investigational new drug applications. Previously Dr. Rodino-Klapac was head of the Laboratory for Gene Therapy Research at Nationwide Children’s Hospital, where her efforts drove the decade-long research project that led to micro-dystrophin gene therapy; an associate professor in the Department of Pediatrics at The Ohio State University College of Medicine; and a faculty member of the Biomedical Sciences Graduate Program and Molecular, Cellular, and Developmental Biology Graduate Programs at The Ohio State University College of Medicine. She received her PhD in molecular genetics from Ohio State University. 

Jeremy Rupon is the global clinical lead for Pfizer’s Hemophilia Gene Therapy Programs. He trained in pediatric hematology/oncology at the Children’s Hospital of Philadelphia.

 

Dimah Saade, M.D., is a clinical research fellow in the Neuromuscular and Neurogenetic Diseases of Childhood Section of the National Institutes of Health’s (NIH’s) National Institute of Neurological Disorders and Stroke (NINDS) and a child neurologist at the University of Iowa Children's Hospital. She is an investigator on the GAN intrathecal gene therapy trial. She trained in pediatric neurology and neuromuscular medicine at the University of Iowa. 

Lesha D. Shah, M.D., is an assistant professor of psychiatry and the medical director of Child, Adolescent and Family Services at the Icahn School of Medicine at Mount Sinai. Her primary academic focus is pediatric research ethics and physician perspectives around medical decision-making for children. She studies issues of consent and capacity as they interface with family complexity and innovative medicine including clinical trials and genomic medicine. Dr. Shah serves on the Icahn School of Medicine at Mount Sinai Institutional Review Board and has published on issues related to medical ethics in Pediatrics, the Journal of the American Academy of Child and Adolescent Psychiatry, and the American Journal of Bioethics. She co-chairs the Pediatric Gene Therapy and Medical Ethics Working Group (PGTME), whose mission is to advance research, education, and policy in addressing emergent ethical issues around investigational gene therapy in pediatric populations. She is dually board certified by the American Board of Psychiatry and Neurology.

Olaf Stuve, M.D., Ph.D., is a professor in the Department of Neurology and Neurotherapeutics at UT Southwestern Medical Center and Chief of Neurology at the VA North Texas Health Care System/Dallas VA Medical Center. At the Dallas VA Medical Center, Dr. Stuve attends to US veterans with neurological disorders. In addition to his clinical activities, he has been the principal investigator (PI) and site PI for numerous clinical trials. He also runs a research laboratory at UT Southwestern. His research interests include molecular and cellular markers of autoimmunity, immune tolerance, and experimental therapies for autoimmune disorders and he has numerous ongoing collaborations with national and international investigators. Dr. Stuve’s research has been supported by grants from the Department of Veterans Affairs, the National Multiple Sclerosis Society (NMSS), the Deutsche Forschungsgemeinschaft (DFG), Boehringer Ingelheim Fonds, and the Doris Duke Charitable Foundation. He has published more than 200 research articles, review articles, editorials, and book chapters and he has given more than 200 invited presentations. He has served on numerous editorial boards of medical and scientific journals, has been a member of National Institutes of Health (NIH), and National Multiple Sclerosis Society (NMSS) study sections, is a past associate editor of JAMA Neurology, and is a past steering committee member of the Immune Tolerance Network (ITN). He received his medical degree from the Free University of Berlin, completed a medical doctoral thesis in physiology at the Max Delbruck Center for Molecular Medicine in Berlin magna cum laude, and received his Ph.D. in immunology from Maastricht University. He completed a transitional internship at the University of Cape Town, a preliminary internship and neurology residency at the University of Washington in Seattle, and a postdoctoral fellowship in neuroimmunology at McGill University in Montreal and the University of California, San Francisco (UCSF). 

Zenobia F. Taraporewala, Ph.D., is a chemistry, manufacturing, and control (CMC) reviewer and acting team lead in the Gene Therapies Branch at the Food and Drug Administration’s (FDA’s) Office of Tissues and Advanced Therapies (OTAT) in the Center for Biologics Evaluation and Research (CBER). She is responsible for regulatory review and oversight of gene therapy products. She is trained as a molecular virologist and has expertise in viral replication, genomics, vaccinology, reverse genetics, and structure-function analysis of viral proteins. At FDA she has developed an expertise in regulatory review of AAV-based gene therapy products and of oncolytic RNA virus products. Previously she was a staff scientist at the National Institutes of Health’s (NIH’s) National Institute of Allergy and Infectious Diseases (NIAID). She received her B.S. in microbiology from the University of Bombay in Mumbai, India; her M.S. in microbiology from M.S. University in Baroda, India; and her Ph.D. in molecular and cell biology from the University of Maryland. She received her postdoctoral training in the Rotavirus Molecular Biology Unit in the Laboratory of Infectious Disease at NIAID/NIH. 

J. Fraser Wright, Ph.D., is a Professor of Pediatrics at Stanford University School of Medicine and the Director of Technology Innovation at The Center for Definitive and Curative Medicine. He is a co-founder and was the Chief Technology Officer at Spark Therapeutics and is scientific co-founder of Kriya Therapeutics. Previously Dr. Wright was a Professor of Pathology and Laboratory Medicine at the University of Pennsylvania, where he established and directed the Gene Therapy Clinical Vector Core Laboratory at The Children’s Hospital of Philadelphia; Principal Investigator of the inaugural National Heart, Lung, and Blood Institute (NHLBI) Gene Therapy Resource Program AAV Clinical Vector Core Laboratory; the Director of Development and Clinical Manufacturing at Avigen; and a scientist in vaccine research at Sanofi Pasteur. In a career of more than 25 years focused on viral vector-based clinical gene therapy, he contributed to many gene therapies including Luxturna and Kymriah, the first products licensed in the United States for genetic and nongenetic diseases, respectively. He received his Ph.D. in biochemistry from the University of Toronto.

Lei Xu, M.D., Ph.D., is the chief of the General Medicine Branch 2 in the Food and Drug Administration’s (FDA’s) Division of Clinical Evaluation and Pharmacology/Toxicology (DCEPT) in the Office of Tissue and Advanced Therapies (OTAT) at the Center for Biologics Evaluation and Research (CBER). Her Branch is responsible for reviewing and overseeing clinical trials, and evaluating trial data of investigational biological products (e.g., gene therapy, cellular therapy and plasma-derived products) in several clinical areas, including Neurology, Ophthalmology, Pulmonology, dermatology, and wound care. Her Branch reviewed all the clinical data that led to FDA approval of the first two directly administered AAV-based gene therapy products: voretigene neparvovec (Luxturna) for the treatment of retinal dystrophy due to RPE65 mutation and onasemnogene abeparvovec (Zolgensma) for the treatment of spinal muscular atrophy. In addition to her regulatory responsibilities, she is actively involved in FDA guidance development. Previously she was a medical officer, evaluating clinical trials of gene and cell therapy products primarily for neurological and ophthalmological disorders. She received her M.D. from Central South University Xiangya School of Medicine in China and her Ph.D. in neuroscience from Yale University. She completed residency training in neurology at Loyola University. She is board certified in neurology by the American Board of Psychiatry and Neurology.

Catherine Zander, Ph.D., is a scientific program manager at the Standards Coordinating Body (SCB). Her previous experience includes researching rare blood clotting disease and founding a patient education program at the University of Alabama at Birmingham, working on the U.S. House of Representatives Committee on Energy and Commerce as an American Society of Hematology and American Association for the Advancement of Science (AAAS) Science & Technology Policy Fellow, and co-chairing the National Postdoctoral Association’s Advocacy Committee. She received her Ph.D. in chemistry from Binghamton University, where she studied the kinetics and molecular mechanisms of neurotransmitters.

National Center for Advancing Translational Sciences