Committee members

Kate Adcock is the Director of Research and Innovation at Muscular Dystrophy UK. Muscular Dystrophy UK is the UK national charity supporting people with neuromuscular conditions. Disclosure statement: Kate Adcock …

Rachel is the Executive Director for Cure MD , a USA-based non-profit organization focused on congenital muscular dystrophy. Cure CMD is also the managing partner for the Congenital Muscle Disease …

1991-1999 Faculty of Medicine, University of Freiburg, Germany 1995-1996 Faculty of Medicine Pitié-Salpêtrière, Paris, France 1999-2002 Scientific research assistant and clinical fellow, Department of Pediatrics, University Hospital, Essen, Germany 2002-2005 …

Dimitrios Athanasiou has more than 25 years’ professional experience on international business projects, working in various countries consulting, financing and reorganizing companies. Since his son was diagnosed with Duchenne Muscular …

Since Fabiola’s adopted son was diagnosed with Facioscapulohumeral Muscular Dystrophy in 2005, Fabiola became deeply involved in the world of neuromuscular diseases. In Italy, Fabiola has been an active member …

John graduated from the University College Dublin, Ireland in 1979. He is currently a Consultant Cardiologist (Electrophysiologist) at the Department of Cardiology, Freeman Hospital, Newcastle upon Tyne, UK, Senior Lecture …

Abby Bronson is the Senior Vice President of Research Strategy at Parent Project Muscular Dystrophy where she develops research strategies and tools that will accelerate drug development in the Duchenne …

Arthur completed his BS in Cellular & Microbial Biology in 1978 at the University of Calgary and his PhD in Biochemistry at University of London.

Dr. Russell Butterfield is a clinician scientist focused on translational research in neuromuscular disorders.  He is an Associate Professor in the Departments of Pediatrics and Neurology at the University of …

Dr. Barry Byrne 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, …

Donald Cairns obtained his Pharmacy degree and PhD from the University of Strathclyde. Following a year as a post-doctoral research fellow with the Cancer Research Campaign, Donald moved to Leicester …

Didier is a pharmacist specialized in Regulatory Affairs as well as in product development.  He has been working at  GENETHON since 2001 where he has successfully obtained Orphan Drugs designations …

Dr. Kevin P. Campbell is an investigator with the Howard Hughes Medical Institute, Director of the Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Center, and Chair, Department of Molecular …

Paula has a career-long interest in the muscular dystrophies spanning clinical care, basic research and clinical research endeavors. Over more than 20 years, she has been a site PI and …

Tom Cooper is a basic researcher who obtained his medical degree from Temple University Medical School in Philadelphia, PA then obtained post-doctoral training at the University of California, San Francisco …

Giulio Cossu has been working in Italy and then in UK on muscle development, muscle stem cells and on cell therapy for muscular dystrophies.

Cristina Csimma is a biopharmaceutical leader with decades of experience in biotechnology, large pharma and venture capital.

Elin Haf has 20+ years experience of drug development in paediatrics and rare disease, clinically, academically and as a regulator at the European Medicine Agency. Elin Haf now serves as …

Beatrice de Montleau is the mother of three children, the youngest of whom is affected by Duchenne Muscular Dystrophy. Beatrice began her volunteer involvement with the AFM (French Muscular Dystrophy …

I am a neurologist based at the Academic University Medical Centres in Amsterdam, The Netherlands. My research area is on muscular dystrophies (not Duchenne MD), hereditary neuropathies, postpolio syndrome, ALS, …

Prof. Sven Dittrich, MD is principal investigator of the German multicentric trial “Effect and Safety of preventive Treatment with ACE-Inhibitor and Beat-Blocker on the onset of Left Ventricular Dysfunction in …

Dongsheng Duan, Ph.D. is the Margaret Proctor Mulligan Professor in Medical Research at the University of Missouri, School of Medicine, Department of Molecular Microbiology and Immunology. Dr. Duan is a …

Prof. Alberto Dubrovsky is Professor of Neurology at the University of Buenos Aires, Argentina, and Full Professor of Neurosciences at the Favaloro University in Buenos Aires. He is Director of …

Tina Duong is a research physical therapist at Stanford University with over 18 years of experience in the clinic and neuromuscular research. Over the past 13 years, she has been …

Michelle has worked in neuromuscular disorders for nearly 20 years. Clinically, she is responsible for the physiotherapy management of both children and adults with all types of neuromuscular disease. In particular …

Dr. Kenneth Fischbeck studies hereditary neuromuscular and neurodegenerative diseases in the Neurogenetics Branch of the National Institute of Neurological Disorders and Stroke at the National Institutes of Health.

Dr. Kevin Flanigan is a Professor of Neurology and Pediatrics at the Ohio State University, and a Principal Investigator at the Center for Gene Therapy at Nationwide Children’s Hospital in …

Pat Furlong is the Founding President and CEO of Parent Project Muscular Dystrophy (PPMD) which she founded together with other parents of young men with Duchenne in 1994.

Dr. Gordish-Dressman is an Assistant Professor of Pediatrics at George Washington University School of Medicine and Health Sciences and the Center for Translational at Children’s National Health System and is a …

Dr Aurélie Goyenvalle is a scientist focused on gene and antisense therapies for the treatment of neuromuscular disorders.

Amy Gray is the Chief Executive Officer of the Charcot-Marie-Tooth Association (CMTA), a patient advocacy organization driving CMT research. In her role as CEO, she has worked closely with the …

Miranda has devoted over 30 years of research to better understanding the process of damage and repair of normal skeletal muscle.

Sharon joined PPMD in January of 2010 to lead its research efforts. She comes to PPMD after 11 years with the Muscular Dystrophy Association where she established MDA Venture Philanthropy …

Eric Hoffman, PhD earned his PhD in Genetics at Johns Hopkins University and then pursued post-doctoral training with Louis Kunkel at Boston Children’s Hospital working on Duchenne muscular dystrophy gene …

Paola Imbrici is a pharmacologist with a long standing interest in the study of genetic channelopathies of skeletal muscle, brain and kidney and their pharmacotherapy. The main aims of her …

Member of Treatsma.uk looking after matters regarding regulatory affairs, advocacy, access to treatment, charities compliance and related matters.

Vincent Jacquemond, PhD, is a Research Director for the The French National Centre for Scientific Research (CNRS), leader of the group ‘Excitability and Ca2+ signalling in normal and diseased skeletal …

Minal Jain, PT, DSc, PCS is the research coordinator for the physical therapy section of the Rehabilitation Medicine Department at the NIH Clinical Center.

Jill Jarecki, PhD, is currently the Chief Scientific Officer at Cure SMA and has been with the organization since 2005. In this capacity, she has managed a broad portfolio of …

Dr. Hermien E. Kan is staff member of the C.J. Gorter Center for high field MRI at the Leiden Universtiy Medical Center, where her main focus is on quantitiatve MR …

Petra Kaufmann, M.D., M.Sc., is Director of the Division of Clinical Innovation at the National Center for Advancing Translational Science (NCATS). In this capacity, she oversees the Clinical And Translational …

Dr Oliver King is an assistant professor in the Department of Neurology at the University of Massachusetts Medical School

Dr Donald Kirsch has almost 35 years of R&D leadership and management experience in the biopharmaceutical industry. He currently runs a biopharma consulting practice in Boston and New York, teaches …

Dr. Kishnani is Chief of the Division of Medical Genetics, Department of Pediatrics and Director of the YT and Alice Chen Center for Genomic Research, which has a focus on …

Since October 2017 Chairman, Research Ethics Committee, Albert-Ludwigs-University Freiburg/Germany

Rajesh Krishna, PhD, FAAPS is currently Senior Director at Certara Strategic Consulting.  Prior to joining Certara, Rajesh was a distinguished scientist and executive director at Merck, and prior to joining …

Dr. Levy is the Scientific Director at Coalition to Cure Calpain 3 (C3) where she facilitates research into finding treatments for LGMDR1 by managing the grant program and by interacting …

Rich has been a licensed physical therapist for over 20 years. He received his PhD in 2003, which was aimed at elucidating the cellular and molecular changes that occur during …

Linda Lowes, PT, PhD is a principal investigator in the Center for Gene Therapy at the Abigail Wexner Research Institute of Nationwide Children’s Hospital and an Associate Professor at The …

Dr. Oscar Henry Mayer is a Professor of Clinical Pediatrics at The Perelman School of Medicine at the University of Pennsylvania, and an Attending Pulmonologist within the Division of Pulmonology …

John McCall’s expertise is drug discovery, risk minimization, and medicinal chemistry. He has worked in a number of disease areas including acute and chronic neurologic disorders, psychiatric diseases, neuromuscular disease, …

Dr. Elizabeth McNeil came to NINDS in 2010, after working for 8 years at the US Food and Drug Administration (FDA). While at the FDA, she worked extensively on a …

Debra Miller is Founder and CEO of CureDuchenne. She and her husband started the organization in 2003 after their only son, Hawken, was diagnosed with Duchenne.

Darren G. Monckton obtained a BSc in biochemistry from the University of Bath (1989) and a PhD in human genetics from the University of Leicester (1992). He did postdoctoral research …

Jennifer Morgan is Professor of Cell Biology in the Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health.

Francesco Muntoni (Professor in Pediatric Neurology, FRCPCH, FMedSci) is Director of the Unit with oversight of both clinical and research activities.

Dr. Kanneboyina Nagaraju, DVM, PhD is a tenured Professor and founding Chair, Department of Pharmaceutical Sciences, at the School of Pharmacy and Pharmaceutical Sciences, Binghamton University, State University of New …

Dr. Leslie Nelson, PT, PhD, is a physical therapist at the University of Texas Southwestern Medical Center in Dallas, Texas where she serves as Assistant Faculty in the Department of …

After having 5 years of clinical neurology training, Dr. Nishino started muscle disease research from 1994 under the tutelage of Dr. Ikuya Nonaka, who remained a steadfast source of inspiration. …

Marie-Christine is the mother of a girl affected by SMA. She is a member of AFM TELETHON Board of Directors also member of the board of SMA Europe (association of …

Writer, speaker, and health care consultant, Meridith O’Connor is a patient advocacy specialist dedicated to informing others about the patient voice and the lived experience of those with chronic illness.

I obtained a B.Sc. in Zoology in 1962 and a Ph.D. on cell behaviour in 1970. After a year in the Musée Nationale D’Histoire Naturelle in Paris the working on …

Mike has been working in the field of neurodegeneration since 1992 when he joined Athena Neurosciences (which was acquired by Elan).

John Porter, Ph.D. is Chief Science officer for the Myotonic Dystrophy Foundation, a non-profit focused on improving patient care and developing novel therapies for myotonic dystrophy.  He has a strong …

Christoph Rehmann-Sutter is a philosopher and bioethicist, Professor of Theory and Ethics in the Biosciences at the University of Lübeck in Germany. Born in 1959 he obtained a first training …

Dr Jon Rey-Hastie is the CEO of DMD Pathfinders, a user-led organisation of adults with Duchenne. He co-founded DMD Pathfinders in 2014 after working for several years on a transition …

Dr. Isabelle RICHARD is a research Director at the CNRS. She is heading the Muscular Dystrophy team within the INSERM unit U951 at Genethon, Evry, France.

1965-1970 Student at Swiss Federal Institute of Technology (ETH) Zürich, Switzerland 1970-1974 Ph.D. Student at Swiss Federal Institute of Technology (ETH) Zürich, Switzerland 1974 -1976 Post-doctoral Fellow at National Institutes …

Dr. Ryan is Head of the Neuromuscular Clinic and Neuromuscular Clinical Research Program at the Royal Children’s Hospital in Melbourne Australia. She trained as a pediatric neurologist and completed a …

Dr Emma Rybalka is a Senior Research Fellow (Skeletal Muscle Biology) and Lecturer (Developmental Biology) at Victoria University and the University of Melbourne and directs the Inherited and Acquired Myopathies …

Ulrike Schara-Schmidt is a paediatric neurologist at the university hospital in Essen, Germany. She has a long-standing clinical interest in muscle disorders and CMS.

On February 1, 2009 Maryze Schoneveld van der Linde joined the ENMC as project manager for TREAT-NMD. In 1995 Maryze Schoneveld van der Linde graduated with a masters degree in …

Jeremy Shefner, MD, PhD, is Chair of the Department of Neurology and Associate Director for Barrow Neurological Institute.

I was diagnosed with Limb Girdle type 2B Dysferlinopathy in 2010. I have been very keen to do everything I can to support research teams with the vital work that …

H. Lee Sweeney, Ph.D., is the William Maul Measey Professor and Chair of the Department of Physiology at Perelman School of Medicine of the University of Pennsylvania. Dr. Sweeney earned …

Dr. Shin’ichi Takeda is currently the honorary director general at the National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP) in Tokyo.

Jim received his Ph.D. at Dalhousie University and then received post-doctoral training at Duke University where he studied protein complexes at the cell membrane of muscle cells. The foci of …

Yvan Torrente, MD, PhD, is Professor of Neurology at University of Milan and Staff Neurologist at the Policlinico Hospital of Milan, Italy.

Dr. Jeffrey A. Towbin, Executive Director of the Heart Institute and Professor & Chief, Pediatric Cardiology at Cincinnati Children’s Hospital Medical Center and the University of Cincinnati College of Medicine, …

Menno van der Holst, PhD, is a pediatric physiotherapist and senior researcher with a special interest in both clinical care and research in Duchenne Muscular Dystrophy (DMD). He is working …

Dr. Maaike van Putten is an assistant professor in the DMD Genetic Therapy Group at the Department of Human Genetics of the Leiden University Medical Center. She has long lasting …

Jan Verschuuren is a neurologist and professor of Neuromuscular Disease at the LUMC. The main research topics of his group are Duchenne and Becker muscular dystrophy, myasthenia gravis and related …

John Vissing is professor of Neurology at the University of Copenhagen, Denmark, and the Director of the Copenhagen Neuromuscular Center at the National Hospital, Rigshospitalet, in Copenhagen, with 38 dedicated …

Elizabeth Vroom is founder and president of the Duchenne Parent Project Netherlands since 1995 and Chair and co-founder of the World Duchenne Organization (UPPMD). She is the mother of an …

After several years in general practice he moved to the USA and did his PhD on hummingbird flight. After that he returned to the UK with a lecturer post at …

Raffaella Willmann studied Biology in Italy and obtained her PhD in Biochemistry in Konstanz (Germany). After a first post-doc position in muscle physiology in Konstanz, she joined the group of …

In Meg’s former capacity as Director, Discovery Research at the Spinal Muscular Atrophy Foundation she has driven and overseen the Foundation’s efforts in the development and execution of new cell-based …

Steve Winder is a Professor of Molecular Cell Biology in the Department of Biomedical Science at the University of Sheffield. As a postdoctoral fellow at the MRC Laboratory of Molecular …

Claire graduated from medicine at Edinburgh University in 2005. After completion of her foundation training in Edinburgh, she was awarded an academic clinical fellowship and moved back to Newcastle to …

Tracey Zoetis, M.S. advises sponsors on regulatory and pharmacology/toxicology issues for FDA-regulated products, including pharmaceuticals, biologics, medical devices, and combination products. Her more than 25 years of experience in toxicology …