Committee members

Dominic has been involved with neuromuscular diseases since 1990 and has extensive experience working with transgenic mice and other laboratory animals as well as having a practicing veterinary background.

Didier is a pharmacist specialised in Regulatory Affairs and also in product development.  Since 2001 he has worked for GENETHON where he has successfully obtained Orphan Drugs designations and Clinical Trial Authorisations for gene therapy products in the field of NMD in several European countries.

Cristina Csimma has held drug development roles in biopharmaceutical, venture capital and academic settings. She is currently Chief Executive Officer of Cydan Development, Inc., a privately-held company focused on advancing the translation of therapeutics for orphan diseases.

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 Columbus, Ohio.  He has extensive experience in the design and development of patient registries, and has served as the Director of the United Dystrophinopathy Project, an NIH-funded genotype/phenotype database and registry.

Prof. Rudolf Korinthenberg, MD is head of the Department of Neuropediatrics and Muscular Disorders at Children’s Hospital, University Hospital Freiburg. He received his pediatric and neuropediatric training at University Hospital Münster/Westfalia and holds his actual position since 1990.

John McCall’s expertise is drug discovery, risk minimization, and medicinal chemistry. He has worked in a number of disease areas including different acute and chronic neurologic disorders. He is currently President, PharMac LLC. He began his career as a medicinal chemist with Upjohn and has subsequently held positions with Pharmacia and Upjohn, Pharmacia, and Pfizer.

Kanneboyina Nagaraju, DVM, PhD is a principal investigator at the Research Center for Genetic Medicine, Children’s National Medical Center (CNMC) and a tenured associate professor of Integrative Systems Biology and Pediatrics at George Washington University School of Medicine and Health Sciences.

Kathryn R. Wagner, M.D., Ph.D. is the Director of the Center for Genetic Muscle Disorders at the Kennedy Krieger Institute and Associate Professor of Neurology and Neuroscience at the Johns Hopkins School of Medicine. She treats patients with muscular dystrophies in a multidisciplinary clinic, addressing the multiple medical and social issues affecting these individuals and families.

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

Gunnar Buyse (MD, PhD) is Professor of Pediatrics and Child Neurology at the University of Leuven (Katholieke Universiteit Leuven), and is deputy clinical chair of Child Neurology at the University Hospitals Leuven. Gunnar Buyse is a Committee Member of the TREAT-NMD Advisory Committee for Therapeutics (TACT).

Annamaria has a long lasting experience in preclinical research on pharmacological treatments for DMD and collaborates with leading scientists in the field. She developed assay conditions for mdx and is familiar with many methods used to test drug efficacy, especially muscle functionality and electrophysiology. She has a profound knowledge of mouse physiology and pathology and hence of the critical points that make out the quality of a study. She is actively engaged in the pre-clinical work within TREAT-NMD and started working at the harmonization of preclinical studies on mdx before TREAT-NMD was launched.

Kenneth is Chief of the Neurogenetics Branch at NINDS and a TREAT-NMD STAC member. He has experience with preclinical (animal) studies in various neuromuscular diseases including Duchenne muscular dystrophy, spinal muscular atrophy, and spinal and bulbar muscular atrophy (SBMA), and he has run clinical trials and biomarker studies in Duchenne muscular dystrophy, spinal muscular atrophy, Friedreich's ataxia, and SBMA.

Miranda has devoted over 30 years of research to better understanding the process of damage and repair of normal skeletal muscle. This extends into trying to more precisely define the early events downstream of the dystrophin deficiency that are responsible for the pathology of DMD.

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 and protein identification.

Jill has worked as the Families of SMA (FSMA) research director for the past 6 years. In this capacity she oversees all FSMA research investments, including those in basic research, preclinical drug development, and clinical research.

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. He is working to develop therapies for the skeletal and cardiac muscle aspects of muscular dystrophies using both small molecule and gene therapy approaches. Dr. Sweeney is the Director of a Wellstone Muscular Dystrophy Cooperative Research Center funded by the National Institute of Arthritis and Musculoskeletal and Skin Diseases.

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 assays and drug screens and implementation of standardized drug testing in a mouse model of SMA.

Mike was part of several project teams (and head of the multiple sclerosis (MS) / autoimmune effort) that resulted in several first-in-class therapeutics for Alzheimer’s (AD), MS and other autoimmune diseases.

After twelve years of drug research in the Basel pharmaceutical industry, Urs joined the University of Lausanne as Professor of Pharmacology in 1992. Since 2004 he has headed the Laboratory of Pharmacology at Geneva – Lausanne School of Pharmaceutical Sciences, University of Geneva. Since 1992, he has had full responsibility for the entire curriculum in pharmacology for pharmacy students.

Jon is a Senior Director and head of R&D in Summit PLC. He has worked in drug discovery for over 15 years including neuromuscular diseases with direct experience in all aspects necessary to identify potential compounds for triage into trials.

Hugh is a pediatric cardiologist at The Nationwide Children’s Hospital Heart Center. He was recruited to Columbus from the University of Arizona to direct the Division of Pediatric Cardiology in 1988.

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 at Newcastle University & an Associate Member of Institute of Human Genetics, International Centre for Life, Newcastle.

Paula has a career-long interest in the muscular dystrophies spanning clinical care, basic research and clinical research endeavors. Over the last 12 years, she has been a site PI and study chair for studies conducted by the multi-center clinical trial network comprised of 26 centers worldwide, the Cooperative International Neuromuscular Research Group (CINRG). Paula’s leadership roles in CINRG include serving as the Medical Director currently, chairing multiple clinical studies (2 currently) and chairing the Publications Subcommittee, whose function is to manage data requests and review of manuscripts and presentations for the CINRG network.

As previous Chief Medical Officer of MedImmune (1993-2008) Ed has extensive experience in clinical trials (maternal AIDS transmission) and drug development (Synergis, Flumist, others), including shepherding of complex protocols through FDA.

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 Duchenne Muscular Dystrophy”, which is organized within the MD-Net and the German Competence Network for Congenital Heart Disease. His group also works on Tissue Doppler and cardiac MRI in Duchenne patients.

Alberto Dubrovsky, MD, is currently Chairman of the Department of Neurology, Director of Neuromuscular Disease Unit of the Neurosciences at Fundacion Favaloro. Since 1983 he has also served as Medical Director of the Argentina Muscular Dystrophy Association. Alberto is a  Professor of Neurology at the University of Buenos and a Full Professor of Neurosciences at the Favaloro University, training as a Neurologist in the field of Neuromuscular Diseases at NIH under the sponsorship of W King Engel.

Petra Kaufmann, M.D., M.Sc., is Director of the Office of Clinical Research (OCR). In this capacity, she oversees the clinical research programs funded by the Institute. The OCR fosters clinical research that increases our understanding of the cause, diagnosis, treatment, and prevention of neurological diseases and translates scientific discoveries into improved therapies for people living with neurological diseases worldwide.

Pascal’s field of expertise includes adult neuromuscular disorders. He has been involved in several clinical trials in the previous years and has a wealth of experience.

Hank is a pediatric pulmonologist with a strong interest in the pulmonary manifestations of neuromuscular disease. He has a special interest in chest wall and spinal disease and has helped develop the Center for Thoracic Insufficiency Syndrome at The Children's Hospital of Philadelphia.

Jerry is the Director of the Centre for Gene Therapy and a Professor of Pediatrics, Neurology, and Pathology with extensive experience in translational neuromuscular disease research including clinical trials. He completed his residency in Neurology at the Neurological Institute at Columbia University, and trained in neuromuscular disease at the Medical Branch of Neurology at NIH.

Professor Kathryn North is the Douglas Burrows Professor of Paediatrics, Faculty of Medicine, University of Sydney and Head of the Institute for Neuroscience for Muscle Research (INMR) based at The Children's Hospital at Westmead, Sydney, Australia. She is a joint Chair of the Australasian Neuromuscular Network which now has over 270 members – clinicians and researchers in the neuromuscular field.

Monique is a paediatric neurologist with a long interest in clinical research into the neuromuscular disorders of childhood. She has expertise in the design and performance of clinical trials - both into natural history and of pharmacotherapeutic agents - in muscle and nerve disorders of childhood, as well as a research interest into outcome measures (particularly neurophysiologic and functional measures).

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, did his Pediatric Residency at Children’s Hospital Medical Center in Cincinnati. Dr. Towbin then moved to Houston to do his Pediatric Cardiology Fellowship at Baylor College of Medicine and Texas Children’s Hospital in 1985. He joined the faculty of Baylor College of Medicine and Texas Children’s Hospital in July 1989 as an Assistant Professor of Pediatrics, and subsequently was promoted to the rank of tenured Associate Professor (1993) and finally tenured Professor (1998). Dr. Towbin relocated back to Cincinnati Children’s Hospital Medical Center in 2009 to become the Executive Co-Director of the Heart Institute.

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 disorders and inclusion body myositis. He is the clinical representative for the LUMC in TREAT-NMD, and president of the Dutch Neuromuscular Centre (www.ISNO.nl).

Marianne has been the leader of the neuromuscular group at the Academic Medical Centre in Amsterdam in the Netherlands for more than 20 years. During this time her group has contributed to research on muscular dystrophies, myositis, motor neuron diseases and hereditary neuropathies.

Maggie is an Assistant Professor for Neurology and a TREAT-NMD Partner within MD-NET (which she co-coordinates). She has broad experience in planning, conducting, analyzing and publishing clinical studies. Therefore she can advise on practicalities of recruitment to a particular protocol, and on other general protocol issues.

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 full range of products, including new molecular entities, new formulations of approved drug products, drug-drug combinations, and drug-device combinations. She worked to develop new scientific, clinical and regulatory standards for the development of certain drug classes and developed initiatives which resulted in standardization and clarification of terminology used in defining claims and endpoints, as well as in increased standardization, precision, and sensitivity in reporting safety and efficacy data.

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 has afforded her a broad perspective on varied and interesting product safety issues. She has been employed by two major CROs, the FDA, and both large and small consulting firms.

Simon is a medical statistician with around 30 years’ experience working in clinical trials. He has worked in many different therapeutic areas and has been involved in academic-run studies as well as many carried out by the pharmaceutical industry. Apart from trial expertise, he also has a lot of experience in the overall drug-development process.

Avital earned her PhD in Statistics at Carnegie-Mellon University. She has specialized in clinical research and particularly in multi-center clinical trials. She is the Director of the Coordinating Center of the Cooperative International Neuromuscular Research Group (CINRG), a network of  more than 20 clinical sites focusing on improving the quality of life of patients with neuromuscular diseases and their families via research. She has also directed clinical trials coordinating centers in epilepsy, premature infants and other diseases.

Joseph Irwin became a Member of the Jennifer Trust for Spinal Muscular Atrophy after his first son Toby was diagnosed with Type I SMA. Joseph, who is a biochemist-pharmacologist with molecular biology and cell biology experience, has worked for many years in hospital based research and for the pharmaceutical industry. Joseph is a consultant on regulatory matters, using his experience with the pharmaceutical industry Joseph was part of the JTSMA Research Committee and their first Honorary Director of Research as well as a past Trustee. Joseph supports the Paediatric Task Force for the European Organisation for Rare Disorders (EURORDIS). Joseph has continued to support organizations working in rare neuromuscular diseases often providing pro bono regulatory support and advice.

Shaun Pattinson is Director of Durham CELLS (Centre for Ethics, Law and the Life Sciences) and Reader in Law at Durham University in the UK. He has a law degree from the University of Hull, and a Master’s degree in Biotechnological Law and Ethics and Ph.D from the University of Sheffield, UK.

He has published on a wide range of topics within bioethics and biolaw. His principal publications are Influencing Traits Before Birth (Ashgate, 2002) and Medical Law and Ethics (Sweet & Maxwell, 2006, 2009, 2011). He edited Medical Law International from July 2005 to July 2011.

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 in molecular biology with a Diploma from the Biocenter at University of Basel, then a second full training in philosophy and sociology at the Universities of Basel, Freiburg in Breisgau and the Technical University of Darmstadt.

Michelle initially specialised in Rheumatology and gained a masters degree in the clinical evaluation and development of outcome measures in Ankylosing Spondylitis.

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 eccentric injury to muscle.  He performed his post-doctoral work in the Department of Physiology at the University of Maryland (UMB) School of Medicine where he examined the role of intermediate filaments in skeletal muscle.  Rich now runs a lab in the Department of Orthopaedics at UMB.  He still maintains a strong interest in measuring muscle contractility and his most recent research tries to relate the changes identified in the lab at the cell and whole muscle levels to changes seen using non-invasive MR imaging and spectroscopy.

Nick is the CEO of Action Duchenne a UK non profit that funds research for new medicines for Duchenne and campaigns to improve access to better medical care.

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.

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 (MVP), a program exclusively focused on the discovery and commercialization of therapies for neuromuscular disease.

Jane Larkindale has worked for MDA since 2007, and currently directs MDA's translational research program. Dr. Larkindale was instrumental in the start up of MDA Venture Philanthropy (MVP), and has subsequently supervised its scientific program.

Bob is a physician and surgeon in private medical practice in Jefferson City, Missouri, USA, and the father of a son with Duchenne Muscular Dystrophy. He also has experience in basic and clinical science research and serves on various advisory and review boards of Duchenne foundations and in the pharmaceutical industry regarding drug development in Duchenne and Becker muscular dystrophies.

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 Association) by serving on the financial committee, bringing to that service a professional background in internal audit and sustainable development.

Marie-Christine is the mother of a girl affected by SMA. She is a member of AFM Board of Directors, AFM international committee and TREAT-NMD Project Ethics Council.

Marita is the Director of Research at the Muscular Dystrophy Campaign which has funded high quality research into neuromuscular disorders for the last 50 years. She in charge of an annual £1.2m budget invested to increase understanding of muscle function and muscle disease and to ensure an efficient bench-to-bedside transition of promising technology.   

Dr Anne Rutkowski is a practising board-certified emergency medicine physician in Los Angeles. Anne's daughter has congenital muscular dystrophy, subtype dystroglycanopathy.

Professor Kate Bushby has overseen the expansion of the Newcastle Muscle Centre since 1999 to its position today as a leading international neuromuscular centre. Together with Volker Straub, Katie is joint coordinator of the TREAT-NMD network.

Professor Volker Straub is joint co-ordinator of TREAT-NMD, executive board member of the World Muscle Society and executive board member of the Institute of Human Genetics at Newcastle University.

Within TREAT-NMD Agata is responsible for leading the work around TREAT-NMD communications and global registries. Her role is also to provide support to the TREAT-NMD Alliance, the Executive Committee; the TREAT-NMD Global Database Oversight Committee (TGDOC) and the TREAT-NMD Advisory Committee for Therapeutics (TACT).