Alan H. Beggs, Ph.D.
Director of The Manton Center for Orphan Disease Research,
Boston Children's Hospital
Sir Edwin and Lady Manton Professor of Pediatrics,
Harvard Medical School
Dr. Alan Beggs is Director of The Manton Center for Orphan Disease Research at Boston Children’s Hospital and the Sir Edward and Lady Manton Professor of Pediatrics at Harvard Medical School. His current research is focused on utilizing genetic approaches in human patients and animal models to understand the pathophysiology and to develop targeted therapies to treat these devastating disorders of childhood.
Dr. Beggs received his AB in biology at Cornell University and his Ph.D. in human genetics at Johns Hopkins University. He completed postdoctoral fellowships in medical genetics at Johns Hopkins University and in clinical molecular genetics at Harvard Medical School, and has directed an independent research laboratory in the Genetics Division at Boston Children's Hospital since 1992. Dr. Beggs has led studies to identify the genetic basis for a wide variety of rare conditions with a particular focus on skeletal muscle and its defects in congenital myopathies and related neuromuscular diseases. Over the past two decades, he has published over 150 articles on neuromuscular and other genetic diseases and his laboratory is at the forefront of research to understand the pathophysiology of X-linked myotubular myopathy (XLMTM), and to develop therapies for this disease.
Deborah Bilder, M.D.
Associate Professor in the Department of Psychiatry, Division of Child and Adolescent Psychiatry, University of Utah
Dr. Deborah Bilder is Medical Director of the University of Utah’s Autism Spectrum Disorder Clinic and the Neurobehavior HOME Program. The Neurobehavior HOME Program is a novel Medicaid medical home setting that provides primary and behavioral health care to over 1000 children and adults with neurodevelopmental disabilities. She is also on the faculty of the Utah Leadership Education in Neurodevelopmental Disabilities (ULEND) training program.
Dr. Bilder earned her medical degree from Vanderbilt University School of Medicine in Nashville, Tennessee and completed the triple board residency program (pediatrics, general psychiatry, child and adolescent psychiatry) at the University of Utah. Following residency, she participated in the Utah Leadership Education in Neurodevelopmental Disabilities (ULEND) program, of which she is now on the faculty. As a clinical investigator, Dr. Bilder leads a research team that investigates autism spectrum disorder (ASD) etiology and epidemiology. Her other areas of clinical and research expertise are ASD adult outcomes and psychiatric comorbidity associated with phenylketonuria. Her work on excess mortality in ASD was listed by the US Department of Health and Human Services’ Interagency Autism Coordinating Committee as among the most significant autism research advances in 2012. She currently serves on a Phase 3 Clinical Trials Steering Committee and works with the pharmaceutical industry to design clinical trials that capture neuropsychiatric outcomes of treatment for genetic disorders. A key component of Dr. Bilder’s role on Audentes’ Board of Scientific and Clinical Advisors is to ensure that the emotional and psychological well being of patients and families, across Audentes’ pipeline, is appropriately represented and considered.
Alan Boyd, B.Sc., M.B., Ch.B., F.F.P.M.
CEO and Managing Director at Boyds
Fellow and President of the Faculty of Pharmaceutical Medicine at the Royal College of Physicians
Chair of the Specialist Advisory Committee in Pharmaceutical Medicine at The Royal College of Physicians
Honorary Professor in the College of Medical and Dental Sciences at the University of Birmingham Medical School
Professor Alan Boyd is a Fellow and President of the Faculty of Pharmaceutical Medicine at the Royal College of Physicians, Chair of the Specialist Advisory Committee in Pharmaceutical Medicine at The Royal College of Physicians, Honorary Professor in the College of Medical and Dental Sciences at the University of Birmingham Medical School, and the Founder, CEO and Managing Director at Boyds consulting firm. The focus of Boyds is to aid and support early stage life science-based companies. His clients now include many companies in Europe, North America and Japan who are devoted to the development of cell and gene based medicines.
Dr. Boyd studied biochemistry and medicine at the University of Birmingham, UK. His 30 years pharmaceutical career began at Glaxo Group Research Ltd. From 1988 he led the cardiovascular medical research team at ICI Pharma, Canada, and later assumed a role as their Director of Clinical and Medical Affairs. In 1999, after four years as Head of Medical Research for Zeneca Pharmaceuticals, Dr. Boyd became Director of Research and Development for Ark Therapeutics Ltd in the UK, where he was responsible for delivering the majority of key development milestones that have shaped the company. In particular, he led the development of their gene based medicines portfolio.
Barry J. Byrne, M.D., Ph.D.
Director of the University of Florida Powell Center for Rare Disease Research
Earl and Christy Powell University Chair in Genetics and Associate Chair of Pediatrics, University of Florida
Member of the American Society of Gene and Cell Therapy (ASGCT) Board of Directors
Founding Editor of Human Gene Therapy, Clinical Development
Member of the Editorial Board for Plos ONE
Dr. Barry Byrne is the Director of the University of Florida Powell Center for Rare Disease Research at the University of Florida and Associate Chair of Pediatrics. He joined the University of Florida in 1997 and is now the Earl and Christy Powell University Chair in Genetics. Dr. Byrne was recently elected to the American Society of Gene & Cell Therapy (ASGCT) Board of Directors. He is a member of the Editorial Board of Plos ONE and the founding editor of Human Gene Therapy, Clinical Development.
Dr. Byrne obtained his B.S. degree from Denison University, his M.D. and Ph.D. from the University of Illinois and completed his pediatrics residency, cardiology fellowship training and post-doctoral training in biological chemistry at the Johns Hopkins Hospital. As a clinician scientist, he is currently studying a variety of rare diseases with specific attention to developing therapies for inherited muscle disease. As a pediatric cardiologist, his focus is on conditions that lead to skeletal muscle weakness and problems in heart and respiratory function. His group has made significant contributions to the understanding and treatment of Pompe disease, a type of muscular dystrophy due to abnormal glycogen storage in muscle. His research team has been developing new therapies using the missing cellular protein or the corrective gene to restore muscle function in Pompe and other inherited myopathies.
Martin K. (Casey) Childers, DO, Ph.D.
Professor in the Department of Rehabilitation Medicine and Investigator in the Institute for Stem Cell & Regenerative Medicine, University of Washington
Dr. Martin (Casey) Childers is Professor in the Department of Rehabilitation Medicine and an Investigator at the Institute for Stem Cell and Regenerative Medicine at the University of Washington.
Dr. Childers received his B.A. from Seattle Pacific University, his D.O. from Western University, and his Ph.D. in physiology and pharmacology from the University of Missouri. Professor Childers’ laboratory is currently pursuing two areas of investigation: Systemic gene replacement delivery for patients with X-linked myotubular myopathy (XLMTM) and induced pluripotent stem (iPS) cell technology to study heart disease in patients with Duchenne muscular dystrophy (DMD). Dr. Childers’ rehabilitation medicine practice at the University of Washington Medical Center (UWMC) is dedicated to serve patients with neuromuscular diseases. The UWMC neuromuscular outpatient clinic is co-sponsored by the Muscular Dystrophy Association (MDA) and staffed by medical specialists focused on neuromuscular medicine.
David Dimmock, M.D.
Associate Professor of Pediatrics, Human and Molecular Genetics Center, Medical College of Wisconsin
Dr. David Dimmock is Associate Professor of Pediatrics at the Human and Molecular Genetics Center at the Medical College of Wisconsin. He is board certified by the ABP in Pediatrics and by the ACMG in Clinical Metabolic Genetics and Clinical Genetics. Dr. Dimmock provides consult to the State of Wisconsin Newborn Screening Umbrella Committee and Metabolic Subcommittee, and has been acting Chair of the Metabolic Subcommittee since 2010.
Dr. Dimmock graduated from St George's Hospital Medical School (University of London) in 1998, then undertook internships in general adult medical training (Internal Medicine and Surgery) before training in pediatrics in the UK. With a focus on adult and pediatric metabolic diseases, he began a pediatric residency program in Phoenix, Arizona. He then undertook Genetics and Clinical Metabolic Genetics fellowship training at Baylor College of Medicine in Houston, Texas. As a clinical researcher, Dr. Dimmock has developed an international reputation for bringing innovative diagnostic testing strategies into the clinic. He is passionate about improving the standard of care for children and adults with inborn errors of metabolism. His research laboratory focuses on improving the diagnosis of mitochondrial and single gene disorders that affect the liver. He has published scientific articles on improved diagnostic testing for these disorders as well as small molecule and gene therapy approaches. Dr. Dimmock has been an invited advisor to the FDA and the Institute of Medicine, and has been involved in more than 15 trials for novel therapeutics in rare disorders, serving as the site primary investigator for 13 trials. He is excited at the opportunities that gene therapy through Audentes can afford his patients with rare disorders.
Kevin M. Flanigan, M.D.
Professor of Pediatrics and Neurology, Ohio State University
Co-Director, Nationwide Children’s Muscular Dystrophy Association Clinic
Investigator, Research Institute of Nationwide Children’s Hospital Center for Gene Therapy
Dr. Kevin Flanigan is an investigator at the Center for Gene Therapy at the Research Institute of Nationwide Children’s Hospital, Co-Director of the Nationwide Children’s Muscular Dystrophy Association Clinic, and a Professor of Pediatrics and Neurology at the Ohio State University in Columbus, Ohio. His current research is directed toward the molecular characterization and therapy of neuromuscular diseases, and the identification of genetic modifiers of disease.
Dr. Flanigan completed residency training in Neurology and fellowship training in Neuromuscular Disease at the Johns Hopkins Hospital in Baltimore. He then completed a postdoctoral research fellowship in the Human Molecular Biology and Genetics program at the University of Utah, prior to joining their faculty in 1997. He has been a member of the Executive Board of the World Muscle Society since 2001, and is a member of the Executive Committee of TREAT-NMD, the international alliance directed toward establishing the infrastructure to ensure that promising new therapies reach patients as quickly as possible. He has conducted multiple clinical trials in Duchenne muscular dystrophy, including trials of gene modifying therapies such as nonsense suppression and exon skipping, and holds INDs for gene transfer trials of vectors directed toward Duchenne muscular dystrophy and mucopolysaccharidosis type 3A.
Mike Lawlor, M.D., Ph.D.
Director of the Pediatric Pathology Clinical Neuromuscular Laboratory and Congenital Muscle Disease Tissue Repository, Medical College of Wisconsin
Dr. Michael Lawlor is Director of the Pediatric Pathology Clinical Neuromuscular Laboratory at the Medical College of Wisconsin. He is also Director of the Congenital Muscle Disease Tissue Repository, which processes and diagnoses muscle and nerve biopsy specimens for Children’s Hospital of Wisconsin.
Dr. Lawlor completed his clinical training in pathology/neuropathology at Massachusetts General Hospital and postdoctoral research training in the laboratory of Dr. Alan Beggs at Boston Children's Hospital. His postdoctoral research work focused on disease pathogenesis and experimental treatments for X-linked myotubular myopathy (XLMTM) and nemaline myopathy. This work has continued and expanded at the Medical College of Wisconsin, including on-site treatment trials of animal models as well as pathological analyses for preclinical trial studies (including anti-myostatin therapy, gene therapy, and protein replacement therapy) currently being performed worldwide. Additional research efforts in the Lawlor laboratory are focused on nemaline myopathy, congenital contractures, and mitochondrial myopathy. Dr. Lawlor is currently working with Audentes Therapeutics to plan muscle biopsy and pathology procedures for a human gene therapy clinical trial for XLMTM based on one of these projects.
Suyash Prasad, M.D.
Senior Vice President and Chief Medical Officer, Audentes Therapeutics
Member of the Royal College of Physicians (MRCP)
Member of the Royal College of Pediatrics and Child Health (MRCPCH)
Fellow of the Faculty of Pharmaceutical Medicine (FFPM)
Dr. Suyash Prasad has served as Senior Vice President and Chief Medical Officer at Audentes Therapeutics since February 2014. He is a United Kingdom board certified physician, having trained at Pediatric Centers of excellence in the UK and Australia; and is a member of the Royal College of Physicians (MRCP) and the Royal College of Pediatrics and Child Health (MRCPCH). He is also an elected Fellow to the Faculty of Pharmaceutical Medicine (FFPM).
Dr. Prasad studied Medicine at the University of Newcastle-upon-Tyne, UK, where he received commendations for Pediatrics, Obstetrics and Gynecology, and Medical Ethics. He received his Diploma in Pharmaceutical Medicine from the Royal College of Physicians of the United Kingdom, and is a past recipient of the Outstanding Contribution Award from the Faculty of Pharmaceutical Medicine of the UK Royal College of Physicians.
Dr. Prasad has worked in drug development for 15 years in positions of increasing responsibility at BioMarin Pharmaceutical, Inc., Genzyme Corporation, and Eli Lilly and Company. Dr. Prasad has a wide range of experience and achievement in international drug development from Phase I to IV, with a specific focus in the clinical development of therapies to treat rare pediatric disorders. His therapeutic expertise includes neuromuscular disease, metabolic medicine, osteology, neuroscience, endocrinology, immunology, cardiology, hepatic disease, genetics and translational science.
Dr. Prasad holds considerable experience in bringing highly innovative therapies to families and children afflicted with severe, chronic disease, and is a dedicated advocate of such children and families.
Benedikt Schoser, M.D.
Professor, Senior consultant neurologist
Friedrich-Baur-Institut, Department of Neurology
Klinikum München, Ludwig-Maximilians University
Dr. Benedikt Schoser is Senior Consultant Neurologist at the Friedrich-Baur-Institute, Department of Neurology and head of the interdisciplinary neuromuscular unit at the Klinikum München, Ludwig-Maximilians-University of Munich, Germany. He is member of the German reference center for neuromuscular disease and co-head of the diagnostic working group of the German Muscular Dystrophy Network (MD-Net). He is assigned to co-chair the neuromuscular special interest board of the European Academy of Neurology in 2016.
Dr. Schoser graduated with a Doctorate in Medicine from the Johannes-Gutenberg-University of Mainz, Germany, in 1993, before completing further residencies in the Departments of Neurology and Psychiatry at the University Medical Center Hamburg-Eppendorf in Hamburg, Germany. Later, he worked as a postdoctoral research fellow in the channelopathy laboratory of Thomas Jentsch at the Center of Molecular Neuroscience (ZMNH) in Hamburg. In 2001, he moved to his current position at the Friedrich-Baur-Institute, Munich, Germany, the German reference center for neuromuscular disorders. Here, he completed his habilitation on the caveolinopathy rippling muscle disease as Professor of Neurology in 2004. As a trained adult neurologist, intensive care neurologist, and myopathologist, Dr. Schoser’s present research is focused on metabolic myopathies, triadopathies, and repeat expansion disorders exploiting methods in human patient cells to understand the pathophysiology and to develop targeted therapies to treat these disorders of all ages. He has conducted several clinical phase 1–3 studies in neuromuscular disorders during the past decade and has a special interest in translational therapy. Dr. Schoser has led studies to identify the pathology and genetic basis for a variety of rare neuromuscular diseases, and has published more than 150 peer-reviewed manuscripts and several book chapters.
Caroline Sewry, B.Sc., Ph.D., F.R.C.Path.
Founder of the Muscle Pathology Service at the
Robert Jones & Agnes Hunt Orthopaedic Hospitals
Muscle Pathologist, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital
Co-founder of the Wolfson Centre for Inherited Neuromuscular Diseases
Dr. Caroline Sewry has worked in the field of muscle pathology for over 45 years, initially with the histochemist Professor A.G.E. Pearse, then with Professor Victor Dubowitz at Hammersmith Hospital, London, and currently with Professor Francesco Muntoni at Great Ormond Street Hospital for Children, London. In 1998 she established a muscle pathology service at the Robert Jones & Agnes Orthopaedic Hospital, Oswestry, and with Professor Glenn Morris and Dr. Ros Quinlivan helped to found the Wolfson Centre for Inherited Neuromuscular Diseases, a multidisciplinary clinical and research centre for all neuromuscular disorders.
Dr. Sewry’s initial work was in the application of histochemistry and electron microscopy to diseased muscle, and with advent of the molecular era she developed the application of immunohistochemistry in her department. She is co-author of the 3rd and 4th edition of ‘Muscle Biopsy: A Practical Approach’ and co-editor of ‘Muscle Disease: Pathology & Genetics’. She has contributed chapters to several textbooks on muscle disease, and has over 300 peer-reviewed publications.