IRDiRC Members

Member Organizations

CountryOrganizationRepresentativeTitle
Australia Western Australian Department of HealthHugh Dawkins (Vice-Chair)Professor, Director of the Office of Population Health Genomics (OPHG), Public Health Division
Belgium European Organisation for Treatment & Research on Cancer (EORTC)Denis LacombeDirector General
Canada Canadian Institutes for Health Research (CIHR)Paul Lasko Professor, Scientific Director
Canada Genome CanadaCindy BellExecutive Vice-President
China BGINing LiCEO, BGI Europe
China Chinese Organization for Rare Disorders (CORD) Kevin HuangFounder & President
ChinaChinese Rare Disease Research Consortium (CRDRC)Qing K WangProfessor, Dean of College of Life Science and Technology, Director of the Key Laboratory
China WuXi AppTecJames WuVice-President, Head and GM of Clinical Diagnostics
EuropeE-RARE ConsortiumDaria JulkowskaScientific Coordinator
Europe EURORDIS-Rare Diseases EuropeBéatrice de MontleauBoard Member
EUEuropean CommissionLine MatthiessenDirector of the Health Directorate, DG Research and Innovation
EUEuropean CommissionIrene NorstedtHead of Unit, Innovative and Personalised Medicine Unit, DG Research and Innovation
FinlandAcademy of FinlandHeikki VilenScience Adviser
France Agence nationale de la recherche (ANR)Catherine DargemontHead of Biology and Development
France French Foundation for Rare DiseasesJean-Louis MandelPresident
France French Muscular Dystrophy Association, AFM-TéléthonMarie-Christine OuilladeAFM Board of Directors, AFM International Committee
France LysogeneKaren AiachCEO
GeorgiaChildren's New Hospitals Management GroupOleg KvlividzeExecutive Director of the Georgian Foundation for Genetic and Rare Diseases
Germany Federal Ministry of Education and Research (BMBF)Ralph SchusterScientific Officer
IndiaIndian Organization for Rare Diseases (I-ORD)Ramaiah MuthyalaPresident and CEO
IrelandShireBryan GoodwinHead of Gastrointestinal, Metabolic, and Endocrine Research Therapeutic Area
ItalyChiesi FarmaceuticiAndrea ChiesiR&D Director, Portfolio Manager
Italy Istituto Superiore di Sanità (ISS)Gualtiero RicciardiPresident
Italy Telethon FoundationLucia MonacoChief Scientific Officer
JapanAdvocacy Service for Rare and Intractable Diseases’ multi-stakeholders in Japan (ASrid)Yukiko NishimuraPresident
JapanJapan Agency for Medical Research and Development (AMED)Makoto SuematsuPresident
JapanNational Institutes of Biomedical Innovation, Health and Nutrition (NIBIOHN)Yoshihiro YonedaDirector General
Kingdom of Saudi ArabiaSaudi Human Genome ProjectSultan Turki AlSedairyDirector King Faisal Specialist Hospital and Research Centre
NetherlandsThe Netherlands Organisation for Health Research and Development (ZonMw)Sonja van WeelyScientific Officer, Sounding Board Group National Plan Rare Diseases
South KoreaKorea National Institute of Health (KNIH)Hyun-Young ParkDivision Director of Cardiovascular and Rare Diseases
Spain National Institute of Health Carlos III (ISCIII)Pedro Cortegoso FernándezSecretary General
SwitzerlandRocheMathew PletcherHead of Rare Disease Discovery
United Kingdom Loulou FoundationDaniel LaveryChief Scientific Officer
United Kingdom National Institute for Health Research (NIHR)Willem OuwehandProfessor of Experimental Hematology University Cambridge
USA Food and Drug Administration, Office of Orphan Products Development (FDA/OOPD)Katherine NeedlemanDirector, Orphan Products Grants Program FDA/OOPD
USA Genetic AllianceSharon TerryPresident and CEO of Genetic Alliance, President of EspeRare
USAGenzymeCarlo IncertiHead of Global Medical Affairs
USAIonis PharmaceuticalsBrett P. MoniaSenior Vice President, Antisense Drug Discovery
USANIH / National Cancer Institute (NCI)Edward L. TrimbleDirector, NCI Center for Global Health
USANIH / National Center for Advancing Translational Sciences (NCATS)Christopher P. Austin (Chair)Director
USA NIH/ National Eye Institute (NEI)Santa J. TumminiaAssociate Director for Strategic Science Initiatives & Programs and Project Officer
USANIH / National Human Genome Research Institute (NHGRI)Lu WangProgram Director, Division of Genome Sciences
USANIH / National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)Stephen I. KatzDirector
USANIH / National Institute of Child Health and Human Development (NICHD)Melissa Parisi Chief of Intellectual and Developmental Disabilities Branch
USANIH / National Institute of Neurological Disorders and Stroke (NINDS) Adam HartmanProgram Director
USA National Organization for Rare Disorders (NORD)Peter SaltonstallPresident and CEO
USANKT TherapeuticsRobert MashalPresident & CEO
USAPfizerKatherine BeaversonPatient Advocacy Director, Rare Disease Research Unit
USAPTC TherapeuticsEllen WelchDirector of Biology/ Genetic Disorders
USA Recursion Pharmaceuticals, IncChris GibsonCEO and Co-Founder
USA Sanford ResearchDavid PearcePresident of Research, Director of Sanford Children's Health Research Center, Professor of Pediatrics

 

Members of the Scientific Committees

Diagnostics Scientific Committee (DSC)

NameTitle
Kym Boycott (Chair) Clinical Geneticist and Associate Professor, Paediatrics, Children's Hospital Eastern Ontario, Canada
Gareth Baynam (Vice Chair)Consultant Clinical Geneticist Genetic Services of Western Australia (GSWA), Clinical Associate Professor The University of Western Australia and Clinical Associate Professor Murdoch University, Australia
Fowzan Sami AlkurayaProfessor, Principal Clinical Scientis/Senior Consultant, Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Center, Kingdom of Saudi Arabia
Michael Bamshad Professor in Paediatrics, Division Chief, University of Washington, Seattle Children's Hospital, USA
Anthony BrookesProfessor in Bioinformatics and Genomics, Leicester University, UK
Han G. Brunner Professor and Head of the department of Human Genetics, Radboud University, The Netherlands
Xavier Estivill Senior Investigator and Chair of the Genetics Program, Sidra Medical and Research Center, Qatar
Kenjiro KosakiProfessor of Medical Genetics and Director, Center for Medical Genetics Keio University School of Medicine, Tokyo, Japan
Milan Macek Chairman of the Department of Biology and Medical Genetics, Charles University Prague, Czech Republic
Gert Matthijs Professor, Head of the Laboratory for Molecular Diagnostics, University Hospital Leuven, Belgium
Ann NordgrenAdjunct Professor of Clinical Genetics, Karolinska Institute, Sweden
Francois Van Der Westhuizen Professor of Biochemistry, North-West University, Potchefstroom, South Africa
Yiming WangProfessor / Senior Advisor, Medical Genetics, BGI, Beijing, China
Feng ZhangSenior Director of Operations and Global Project Management, WuXi NextCODE, USA

 

Interdisciplinary Scientific Committee (ISC)

NameTitle
Petra Kaufmann (Chair) Director, Division of Clinical Innovation National Center for Advancing Translational Sciences (NCATS) and Director, Office of Rare Diseases Research, USA
Domenica Taruscio (Vice Chair) Director of National Centre for Rare Diseases, Istituto Superiore di Sanità, Italy
Angel Carracedo Professor of Legal Medicine-USC, Director of the Galician Public Foundation of Genomic Medicine, University of Santiago de Compostela, Spain
Gema ChicanoBoard of Directors of EURORDIS and President National Asociación de Afectados por Displasia Ectodérmica (A.A.D.E.)
Jack Goldblatt Professor, University of Western Australia, Director, Director of Familial Cancer Programme, King Edward Memorial Hospital, Perth, Australia
Stephen GroftEx-Director, Office of Rare Diseases Research, Senior Advisor, National Center for Advancing Translational Sciences (NCATS), USA
Ken IshiiDirector, Department Science Promotion, AMED, Tokyo, Japan
Edmund JessopPublic health Advisor, NHS England, London, UK
Bartha Maria Knoppers Professor, Director of Centre of Genomics and Policy, McGill University, Canada
Jeffrey Krischer Professor and Principal Investigator, Center for the Rare Diseases Clinical Research Network, University of South Florida, USA
Hanns Lochmüller Professor, Institute of Genetic Medicine, Chair of Experimental Myology, Newcastle University, UK
Samantha Parker Chief Patient Access/Public Affairs Officer, Lysogene, France
Rumen Stefanov Professor in public health, Medical University of Plovdiv, Bulgaria

 

Therapies Scientific Committee (TSC)

NameTitle
Diego Ardigò (Chair)Project Leader, Advanced Therapy Medicinal Products (ATMP) and biologics, Chiesi Farmaceutici S.p.A., Italy
Virginie Hivert (Vice-Chair)Therapeutic Development Director, EURORDIS-Rare Disease Europe, France
Annemieke Aartsma-RusLeader of the “DMD exon skip group”, Professor, Department of Human Genetics, Leiden University Medical Center, The Netherlands
Seng H. ChengGlobal Head of Research and Early Development, Rare Diseases, Sanofi, USA
Robin ConwitMedical Officer/ Program Director Division of Clinical Research, National Institute of Neurological Disorders and Stroke (NINDS), NIH and Associate Professor Georgetown University, USA
Michela GabaldoHead Alliance Management & Regulatory Affairs Manager at SR-TIGET San Rafaele Telethon Institute for gene therapy, Milan, Italy
Adam Heathfield Director, European Science Policy, Pfizer, UK
Yann Le CamChief Executive Officer, EURORDIS-Rare Diseases Europe, France
Sandrine MarreaudHead of Medical and Pharmacovigilance Department & Coordinator Brain Metastases Platform, EORTC, Belgium
Akifumi MatsuyamaDirector, Platform of Therapeutics for Rare Diseases, National Institutes of Biomedical Innovation, Health and Nutrition (NIBIOHN), Japan
Anne PariserDeputy Director of the Office of Rare Diseases Research (ORDR) National Center for Advancing Translational Sciences (NCATS) National Institutes of Health (NIH), USA
Karin RademakerHead of sub-department Research & Development and Education of the Department Clinical Pharmacy, University Medical Centre, Utrecht, The Netherlands
Maurizio ScarpaCoordinator, MetabERN European Reference Network for Hereditary Metabolic Diseases Director Center for Rare Diseases, Horst Schmidt Klinik, Wiesbaden, Germany Professor of Pediatrics; University of Padova, Italy
Josep Torrent i Farnell Professor of Clinical Pharmacology and Therapeutics at the Autonomous University of Barcelona and Director General of the Fundació Doctor Robert, Advanced Centre of Services and Training for Health and Life Sciences, Spain

 

Members of the Scientific Secretariat

NameTitle
Ana RathCoordinator Scientific Secretariat, Director of Orphanet, INSERM US14, France
Anneliene JonkerCommunication Manager, INSERM US14, France
Lilian LauProject Manager, INSERM US14, France
Driss El MoustaineData Manager, INSERM US14, France
Marlène JagutCommunication Manager substitute, INSERM US14, France