Committee members

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.

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.

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

Dr. Michael Kelly is Chief Scientific Officer of CureDuchenne. Dr. Kelly, a senior pharmaceutical executive, brings more than 25 years of experience in drug discovery and development to the organization. He is responsible for advancing drug development programs and identifying new drug targets that exhibit potential to transform the treatment of Duchenne muscular dystrophy.

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.

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 is a pharmacologist specialized in pre-clinical in vivo and ex vivo studies of inherited and acquired neuromuscular disorders. In this general frame, she has a long lasting experience in preclinical research on pharmacological treatments for DMD and collaborates with leading scientists in the field.

Dr. Annemieke Aartsma-Rus is a professor of translational genetics at the Department of Human Genetics of the Leiden University Medical Center and leader of the DMD genetic therapy group. She was previously Chair of the executive committee of the TREAT-NMD alliance, president-elect of the Oligonucleotide Therapeutics Society and is a member of the Project Ethics Council and TACT Committee.

Hugh's  background is in echocardiography and cardiac function analysis, coupled with a large experience with the muscular dystrophy population. Presently he is a Professor of Paediatrics at Baylor College of Medicine, and is Staff Cardiologist at The Heart Center at Texas Children’s Hospital where he directs the care of neuromuscular cardiology patients.

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 Dystrophy 4 years ago, he became a fulltime international patient advocate in Duchenne and in rare diseases. He is currently a member of EURORDIS, a EUPATI Fellow, EUPATI’s Course Committee and established the Greek EUPATI National Liaison Team and a nominated patient expert by EMA (European Medicines Agency).

Currently Dimitrios is a Board Member of United Parent Projects Muscular Dystrophy (UPPMD) the global umbrella organizations for Duchenne, Co-Chairs EFGCP’s Children’s Medicine Working Party (CMWP) and is DIA’s EuroMeeting 2017 Program Committee Member. Nationally in Greece he established the Parent Project of MDA HELLAS and deals with improving the SoC and access in the country.

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.

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

Professor 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 Polytechnic where he held a five-year lectureship in pharmacy. In 1992 Donald was appointed senior lecturer in medicinal chemistry in Sunderland School of Pharmacy and in 2003 moved to Robert Gordon University in Aberdeen as Associate Head. In 2006, he was promoted to Professor of Pharmaceutical and Medicinal Chemistry, in 2010 he was appointed Acting Head of School and in 2012 he was appointed to his present post of Head of the School of Pharmacy and Life Sciences.

Since August 2015, Dr de Chastonay has held the newly created position of Director of Development for Cure CMD. This allows her to interact not only with the CMD community but also with researchers, clinicians, the pharmaceutical industry, advocacy and funding organizations striving to improve the lives of the affected.

Paula has a career-long interest in the muscular dystrophies spanning clinical care, basic research and clinical research endeavors. She is experienced as a site PI and study chair for studies conducted by the multi-center clinical trial network comprised of more than 25 centers worldwide, the Cooperative International Neuromuscular Research Group (CINRG).

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.

Giulio Cossu is Constance Thornley Professor of Regenerative Medicine at the University of Manchester. He received his MD degree from the University of Rome, then moved as Fogarty fellow at the University of Pennsylvania and in 1992 became Professor of Histology and Embryology in Rome. In 2000 he became Director of the Division of Regenerative Medicine at San Raffaele in Milan. In 2012 he moved as Professor of Human Stem Cell Biology to University College London and in 2013 to the University of Manchester.

He has been working as CAT member at EMA (2012-13). He is EMBO Member, Member of the European Academy of Science, Fellow of the Academy of Medical Sciences and of the Accademia dei Lincei. Giulio Cossu is recognized for his pioneering work on muscle development and on cell therapy for muscular dystrophies. He has published more than 200 peer-reviewed papers and secured grants for more than 10 M£.

Giulio Cossu has no conflict of interest to disclose.

Cristina Csimma’s experience in the biopharmaceutical, venture capital and academic settings encompasses global development in multiple therapeutic areas including rare neuromuscular diseases, translational through registration clinical studies, and integration of biomarkers and novel technologies into development as well as leadership roles in new company formation and fund raising. Dr Csimma served several years on the Core Committee and has reviewed many of our applications.

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.

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.

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.

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 Director 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.

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

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.

Kevin is the Director of the United Dystrophinopathy Project, an NIH-funded consortium studying the natural history and genotype/phenotype correlations in the DMD gene. 

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 Nathalie Goemans (M.D. PhD) is a paediatrician and child neurologist, with certification in rehabilitation medicine and is currently head of the Neuromuscular Reference Centre within the department of Paediatrics and Child Neurology at the University Hospitals Leuven, Belgium, and consultant in neuropediatrics at DVC St Jozef Antwerp, Belgium, a rehabilitation centre with residential setting for neuromuscular patients.

Amelie Gubitz serves as a Program Director at the National Institute of Neurological Disorders and Stroke (NINDS), USA. Her portfolio includes basic, translational and clinical research on amyotrophic lateral sclerosis, X-linked spinal and bulbar muscular atrophy, Friedreich's ataxia and hereditary spastic paraplegia. Amelie earned a Ph.D. in pharmacology from the University of Cambridge, UK, and then completed a Wellcome Trust Fellowship at Harvard Medical School. Subsequently, she worked as a Senior Scientist in the target discovery group for neuropathic pain at Parke Davis, UK. Prior to joining the NINDS in 2006, she studied the molecular pathogenesis of spinal muscular atrophy in the laboratory of Dr. Gideon Dreyfuss at the University of Pennsylvania.

Eric Hoffman, is Associate Dean for Research, School of Pharmaceutical Sciences, Binghamton University - SUNY, New York, USA and the CEO of ReveraGen BioPharma, Rockville, MD USA

Joseph Irwin became a Member of Spinal Muscular Atrophy Support UK (previously 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.

Jill is the Chief Scientific Officer at Cure SMA (formerly Families of SMA), and she has worked there since 2005. In this capacity, she has overseen over 40 million in SMA research investments, including in basic research, preclinical drug development, clinical research, and regulatory work.

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 muscle and brain in Duchenne and Becker muscular dystrophy and high field muscle MR spectroscopy.

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 Drug Discovery and Management at the Harvard University Extension School and courses at MassBio.

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.

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.

Linda Lowes, PT, PhD is the director of clinical therapies research and a member of the Center for Gene Therapy at the Research Institute of Nationwide Children’s Hospital.

Dr. Oscar Henry Mayer is an Associate Professor of Clinical Pediatrics at The Perelman School of Medicine at the University of Pennsylvania, and an Attending Pulmonologist within the Division of Pulmonology at the Children’s Hospital of Philadelphia (CHOP), where he is the medical director of the CHOP Pulmonary Function Testing (PFT) laboratory.

Dr Anna Mayhew is a Consultant Research Physiotherapist at The MRC Centre for Neuromuscular Diseases at Newcastle, Newcastle University.

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, cardiovascular disease, inflammatory disease, and oncology. He is currently President, PharMac LLC. Dr McCall has served for several years on our Core Committee and has reviewed many of our applications.

Elizabeth McNally is Chair and Director at Center for Genetic Medicine, Northwestern University Feinberg School of Medicine.  Dr. McNally has led preclinical and clinical research on inherited cardiovascular and neuromuscular diseases. Her expertise in the genetic mechanisms of cardiomyopathies and muscular dystrophies has led to new insight about how heart failure and muscle dysfunction occur.

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.

Debra Miller co-founded CureDuchenne in 2003 with her husband, Paul, after their only son was diagnosed with Duchenne. She relies on her extensive background in sales and marketing to lead CureDuchenne.

Jennifer Morgan is a Great Ormond Street Hospital Children’s Charity Professor of Cell Biology in the Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Programme, University College London Great Ormond Street Institute of Child Health. She is a member of the muscular dystrophy exon skipping (MDEX) consortium where she is involved in the analysis of dystrophin exon skipping and dystrophin protein production in cells and muscles of patients treated with antisense oligonucleotides in clinical trials.  She is also a PI of the MRC Centre for Neuromuscular Diseases, a partnership between the UCL Institutes of Neurology and Child Health and the University of Newcastle upon Tyne, directed by Professor Michael Hanna at the UCL Institute of Neurology.

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

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.

Marie-Christine is the mother of a young lady affected by SMA. She is president of SMA Europe an umbrella association of SMA patients organization in Europe  She is also a member of AFM Board of Directors, and GENETHON board of directors.

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.

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 interest in ensuring the scientific rigor of preclinical study design, conduct, and the validity of data used to provide rationale for clinical trials, across all neuromuscular disorders, and played a key role in efforts to include such considerations in Federal and non-Federal grant review processes.

Christoph Rehmann-Sutter is a philosopher, Professor of Theory and Ethics in the Biosciences at the University of Lübeck in Germany and currently also Visiting Professor at King’s College in London. Born in 1959 he obtained a first training in molecular biology with a Diploma from the Biocenter at University of Basel in 1984, then a second full training in philosophy and sociology with a doctoral degree at the Technical University of Darmstadt 1995. 1997-1998 he joined the Department of Environmental Science, Policy and Management ESPM of the University of California at Berkeley as a Research Fellow. 1996-2009 he was Head of the Unit for Ethics in the Biosciences at the University of Basel in Switzerland. 2001-2009 he was Chair of the Swiss National Advisory Commission on Biomedical Ethics, elected by the Swiss Government, advising parliament and government.

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.

Monique is a paediatric neurologist with a long interest into 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). She is Director of the Neurology Department at The Royal Children's Hospital in Melbourne.

Professor Lars Sandman is a philosopher by training and received his PhD in practical philosophy from Gothenburg university in 2002. He is currently professor of care ethics at University of Borås, Sweden, and guest professor at the National Centre for Priority Setting in Health Care at Linköping University, Sweden.

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

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.

Ulrike Schara is a paediatric neurologist at the university hospital in Essen, Germany. She has a long-standing clinical interest in muscle disorders and CMS. She has recently started to build a patient registry for CMS in collaboration with TREAT-NMD.

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.

Jan Verschuuren is a neurologist and professor of Neuromuscular Disease at the LUMC. He is the clinical representative for the LUMC in TREAT-NMD, and president of the Dutch Neuromuscular Centre (www.ISNO.nl).

Maggie Walter is Associate Professor of Neurology at the Ludwig-Maximilians-University of Munich. She has trained as a neurologist at the LMU Munich, and is working at the Friedrich-Baur-Institute, the neuromuscular department of the LMU, in leading position. Furthermore, she graduated with a master degree in management of social and health institutions.

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 the Royal Veterinary College where he first became involved in DMD research. From 1995 he has been based at the Imperial College.

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.

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.

Prof. Kate Bushby MD FRCP is a Professor of Neuromuscular Genetics. She is a clinical academic with joint appointments between Newcastle University and the NHS. The Muscle Team within the Institute of Genetic Medicine is a partner in the MRC Centre for Neuromuscular Diseases, of which Prof Bushby is Deputy Director.

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.

Becca Leary is a member of the TREAT-NMD Secritariat and responsible for the Global SMA and DMD registries.

Cathy Turner is Duchenne Programme and TACT Coordinator at the John Walton Muscular Dystrophy Research Centre. Cathy has also been responsible for supporting the NeurOmics project with significant involvement in communications, data-sharing and ethics. Prior to this she was the communications officer for BIO-NMD. In addition, Cathy works closely with patient organisations on improving patient and family involvement in neuromuscular research and is part of a small team currently developing interactive digital tools to support children taking part in paediatric clinical trials.

Cathy has a background in journal publishing with Elsevier Science and Emerald Insight and then worked as a science teacher for 5 years before joining the team here at Newcastle University. She has a degree in biochemistry, a post-graduate teaching certificate in science and a Masters in Business Administration.

Michael joined the TREAT-NMD team in March 2009 and is responsible for maintaining and developing the TREAT-NMD website.