Global database oversight committee - TGDOC
The TREAT-NMD Global Database Oversight Committee (TGDOC) is composed of representatives of the TREAT-NMD network plus representatives of patient organisations and each national registry. The Chair of the committee is Dr Hugh Dawkins and the Chair-elect is Dr Nathalie Goemans.
The TGDOC is responsible for reviewing all requests for data from the global database. This is intended to be a streamlined and rapid procedure in order not to delay approval. Requests will be responded to within a set time period of two weeks.
A list of all committee members is provided below, together with their disclosure statements.
Explanatory note: Examples of financial interest/arrangements to be disclosed include employment, grant support, honoraria, equity, ownership and royalties from a commercial organization within the last 3 years (after 01-01-2009) and valued at more than 2,000 Euro.
M.D - UZ Leuven
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.
Pediatric Neurologist - London Health Sciences Centre
Dr Campbell practices at the Children’s Hospital-London Health Sciences Centre and at the University of Western Ontario, where he is an Associate Professor of Pediatrics, Clinical Neurology, and Epidemiology and Biostatistics. He is currently the medical director of the Pediatric Neuromuscular Clinic and the Pediatric Neurophysiology Laboratory.
Office of Population Health Genomics, Public Health Division, Department of Health
Curator of Australian National DMD Registry
Professor Dawkins leads the OPHG in the development and management of policies, plans and statewide services to minimise the impact of rare diseases. He provides advice and recommendations on issues relating to genetic testing, screening, gene patents, genetic privacy, stem cell therapy and the translation of new knowledge and technologies to improve in health services.
Research Program Manager - Fondazione Telethon
Representative of the Italian registry of patients with neuromuscular diseases-onlus
Anna Ambrosini (PhD in Pharmacology and Toxicology) has 15 years experience in research laboratories active in the field of neuroscience. Since 2001 she has been Research Program Manager for the Italian Fondazione Telethon, where, in particular, she is responsible for developing programs in the field of inherited neuromuscular diseases.
Paediatric Neurologist - Moscow Region Paediatric Psychoneurological Hospital
Curator of Russian (Moscow) DMD and SMA Registries
Dr Svetlana Artemieva is head of the paediatric neurology section for the Moscow region at the Moscow Region Paediatric Psychoneurological Hospital No. 1. She is also responsible for the Russian patient registry for DMD and SMA together with the patient organization Nadezhda.
Senior Scientist, Head of Gene Therapy Group - Russian Academy of Medical Sciences
Curator of Russian (St Petersberg) DMD and SMA Registries
Head of Laboratory at the Pasteur Institute of Iran
Curator of the Iranian DMD Registry
Farhad Bayat, MS, works as a Head of Laboratory at the Pasteur Institute of Iran. He is a patient organisation representative. His background is in organic chemistry and in quality control of recombinant proteins & vaccines.His main topics of research are new drug delivery systems and nanomedicines.
Assistant Professor - INSERM
TREAT-NMD work package leader for patient registries
Christophe Béroud (PharmD, PhD): has 22 years experience in research laboratories and is an expert in bioinformatics (LSDBs) and molecular biology (diagnostic of DMC).
Dutch Patient Organisation Representative - Vereniging Spierziekten Nederland - VSN
Patient organisation representative
Italian DMD Registry Curator - Parent Project - Genitori contro la Distrofia Musculare di Duchenne & Becker ONLUS Italy
Curator of Italian DMD/BMD Registry
As father of a young man affected by DMD, Filippo has been working since 1996 to advocate for Duchenne and Becker patients in Italy, Europe and worldwide, always convinced that their work could open a new path for many other similar diseases/conditions.
Consultant of Neurology and Head of Neurogenetics Unit - Air Hospital, Egypt
Curator of the Egyptian DMD registry
Dr Rasha El Sherif is a Consultant of Neurology and a Head of Neurogenetics Unit at the Egypt Air Hospital. She is also a researcher in the laboratory of neurogenetics at the Ain Shams University. Dr EL Sherif underwent training on molecular diagnosis of muscle disease (genetic diagnosis of DMD) at the National Institute of Neuroscience NCNP Tokyo, Japan in 1998, 2000, 2008 and 2010, where she was a visiting researcher in 1998 and 2000. She holds a PhD in neurology obtained from the Ain Shams University in 2010.
Professor of Pediatrics and Neurology - Ohio State University College of Medicine
Director of the United Dystrophinopathy Project (UDP) Registry
Kevin is the Director of the United Dystrophinopathy Project, a NIH-funded consortium studying the natural history and genotype/phenotype correlations in the DMD gene.
Curator of the Danish TREAT-NMD DMD and SMA registry - The Rehabilitation Centre for Neuromuscular Diseases
Curator of the Danish DMD and SMA Registries
Turkish DMD and SMA Registry Curator (Istanbul) - Istanbul University
Curator of Turkish (Istanbul) DMD and SMA Registries
USA SMA Registry - Indiana School of Medicine
Curator of US SMA Registry
Polish DMA and SMA Registry - Medical University of Warsaw
Position in Global Database Oversight Committee - Coordinator of Polish DMD and SMA Registries
Anna Kaminska is Professor and Head of the Department of Neurology at the Medical University of Warsaw, Poland. She received the MD and PhD in Medical Sciences from the Medical University of Warsaw.
Turkish DMD and SMA Registry Curator (Ankara) - Hacettepe University
Position in Global Database Oversight Committee - Curator of Turkish (Ankara) DMD and SMA Registries
Head of Department of Molecular Genetics and Diagnostics - Semmelweis University
Curator of Hungarian DMD and SMA Registries
Dr. Veronika Karcagi, PhD is Head of Department of Molecular Genetics and Diagnostics at the National Institute of Environmental Health in Budapest.
Chief of Early Stage Exploratory Clinical Trial Unit - National Institute of Neuroscience - National Center of Neurology and Psychiatry
Curator of Japanese Muscular Dystrophy Registry (Remudy)
Consultant Pediatric Neurologist - University Medical Center Freiburg
Head of TREAT-NMD Care and Trial Site Registry (CTSR)
Dr. Jan Kirschner is coordinator of the Clinical Trial Coordination Centre (CTCC) based in Freiburg, Germany.
Senior Consultant in Child Neurology - Turku University Central Hospital
Curator of Finnish DMD and SMA Registries
Professor of Experimental Myology - Newcastle University
Oversight Committee Member (former chair of TGDOC)
Professor Hanns Lochmüller trained as a neurologist in Munich (Germany) and Montreal (Canada). He was appointed chair of experimental myology in the neuromuscular research group at the Institute of Genetic Medicine of Newcastle University in 2007 and was elected Chair of the TREAT-NMD Alliance Executive Committee in April 2012. Hanns is also scientific coordinator of EuroBioBank and leads the activity on “patient registries and biobanks” for TREAT-NMD.
President of the Children with SMA Charitable Foundation - Children with SMA
Curator of Ukranian SMA Registry
Vitaliy grew up in the Ukraine and graduated in 1993 from Kharkiv National University after specializing in nuclear physics. He worked both in this area and as a forensic investigator until the birth of his daughter. At the age of one she was diagnosed with spinal muscular atrophy and as a result of this in 2004 Vitaliy founded the Foundation “Children with SМА”.
Bulgarian DMD and SMA Registry - University Hospital Alexandrovska
Curator of Bulgarian DMD and SMA Registries
Curator of DMD and SMA Registry in Serbia - University of Belgrade
Curator of Serbian DMD and SMA Registries
Operations Manager, CINRG and Children’s National - CINRG
Curator of the CINRG Database
Lauren has been involved with the Cooperative International Neuromuscular Research Group (CINRG), an academic clinical trial network, for over 10 years. She is the central genetic counselor and operations manager for the Coordinating Center at Children’s National in Washington, DC.
Curator of Spanish Neuromuscular Diseases Registry
Carmen Paradas Lopez, PhD, MD is a Neurologist and Clinical Researcher in the Neuromuscular Diseases Unit at Hospital Universitario Virgen del Rocio and Instituto de Biomedicina de Sevilla (HUVR-IBiS), Universidad de Sevilla where she trained as a neurologist. She is one of the curators of the Spanish neuromuscular diseases registry.
Board of directors - Association Française contre les Myopathies - AFM
Patient Association Representative
Marie-Christine is 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.
New Zealand NMD Registry Curator
Curator of the New Zealand NMD Registry
Miriam Rodrigues is a genetic counsellor whose dedication to rare neuromuscular disorders began when she was appointed Membership Services manager at the Muscular Dystrophy Association of New Zealand (MDA NZ) in 2006. Launched in 2011 the NZ NMD Registry is an MDA NZ initiative covering all neuromuscular disorders and is co-ordinated by Miriam.
Portugese DMD Registry - National Insitute of Public Health
Curator of Portuguese DMD Registry
French SMA Registry Curator - University Hospital of Rouen
Curator of French SMA Registry
Patient Association - Initiative - Forschung und Therapie fuer SMA Deutsche Gesellschaft fuer Muskelkranke (DGM)
Representative of the German DMD and SMA registries and a patient representative
Associate Professor, Astrid Lindgrens Barnsjukhus - Karolinska Institute
Thomas Sejersen (MD, PhD): Head of clinical and research team for neuromuscular disorders in childhood. He is involved in ENMC workshops on DMD and desmin-related myopathies.
Spanish SMA Registry - Hospital Sant Pau
Coordinator of Spanish SMA registry
Born in La Plata Argentina, Eduardo is a specialist in Pediatrics and Medical Genetics also he is the Principal Investigator of the U-705 CIBERER. He is devoted to diagnosis and research in SMA at the Hospital of Sant Pau of Barcelona, a reference Center for SMA diagnosis from all over Spain.
Coordinator of DMD Patient Registry in Romania - Parent Project Association
Coordinator of Romanian DMD Registry
Research Engineer - INSERM
Position in Global Database Oversight Committee - Curator of French DMD Registry
Sylvie Tuffery-Giraud (PhD) has 16 years experience in molecular analysis of the dystrophin gene and is particularly involved in mutations leading to splicing defects.
China DMD Care and Support Association
Chinese DMD Registry Representative
Jen Wang founded the China DMD Care and Support Association together with other parents of young men with DMD on July 10th 2011. The Association supports families in China and helps them to understand the scientific research and achievements of a therapy for Duchene and Becker Muscular Dystrophy.
Bioethicist - Newcastle University
Expertise in ethics and governance
Dr Simon Woods is a bioethicist at the Policy, Ethics and Life Sciences Research Centre (PEALS).
Curator of Dutch SMA Registry - University Medical Centre Utrecht
Curator of Dutch SMA Registry
Head of Neuromuscular Section, Department of Neurology - Leiden University Medical Center
Position in Global Database Oversight Committee - Curator of Dutch DMD/BMD Registry
Dr Jan Verschuuren is a neurologist at the Department of Neurology of the LUMC, where he heads the neuromuscular section.
Associate Professor of Neurology - University Hospital Brno
Curator of the Czech National DMD/BMD Registry
Co-founder and responsible for the Swiss registry for SMA and DMD - University Childrens Hospital
President, Mexico SMA registry curator
Moisés Alatorre is an MD and PhD born in Guadalajara, Mexico. He is the chair-man and founder of the Asociación Mexicana de Atrofia Muscular Espinal (AMAME) since 2010. AMAME provides free molecular diagnose for SMA for any patient that needs it in México being the national reference center and also develop research about the situation of SMA in his country.
TREAT-NMD Programme Coordinator
Becca Leary is a member of the TREAT-NMD Secritariat and responsible for the Global SMA and DMD registries.