Members

Members

IRDiRC members are composed of funding bodies/organizations investing a minimum of US$10 million over 5 years in research projects/programs contributing towards IRDiRC objectives.

The IRDiRC Consortium Assembly is composed of one representative per funding body/organization, one representative per invited patient umbrella organization, and the Chairs of each IRDiRC Scientific Committees.

Member Institutions

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 ResearchPaul Lasko Professor, Scientific Director
Canada Genome CanadaCindy BellExecutive Vice-President
China BGINing LiCEO, BGI Europe
ChinaChinese Rare Disease Research ConsortiumQing K WangProfessor, Dean of College of Life Science and Technology, Director of the Key Laboratory
China WuXi AppTec Co., Ltd.James WuVice-President, Head and GM of Clinical Diagnostics
EuropeE-RARE ConsortiumDaria JulkowskaScientific Coordinator
EUEuropean CommissionRuxandra Draghia-AkliDirector of the Health Directorate, DG Research and Innovation
FinlandAcademy of FinlandHeikki VilenScience Adviser
France Agence National de la Recherche, ANRCatherine DargemontHead of Biology and Development
France French Foundation for Rare DiseasesJean-Louis MandelOperations officer
France French Muscular Dystrophy Association, AFMMarie-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
IrelandShireDavid ThomsonSenior Vice President and Global Head, Research and Nonclinical Development
ItalyChiesi Farmaceutici S.p.A.Andrea ChiesiR&D Director, Portfolio Manager
Italy Istituto Superiore di SanitàGualtiero RicciardiPresident
Italy Telethon FoundationLucia MonacoChief Scientific Officer
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 DevelopmentSonja van WeelyScientific Officer, Sounding Board Group National Plan Rare Diseases
South KoreaKorea National Institute of HealthHyun-Young ParkDivision Director of Cardiovascular and Rare Diseases
Spain National Institute of Health Carlos III Pedro Cortegoso FernándezSecretary General
SwitzerlandRocheSangeeta JethwaPatient Partnership Director, Rare Diseases
United Kingdom Loulou FoundationAshley WinslowChief Scientific Officer
United Kingdom National Institute for Health ResearchWillem OuwehandProfessor of Experimental Hematology University Cambridge
USA Food and Drug Administration, Office of Orphan Products Development (FDA)Katherine I. NeedlemanDirector, Orphan Products Grants Program FDA/OOPD
USAGenzymeCarlo IncertiHead of Global Medical Affairs
USAIonis PharmaceuticalsBrett P. MoniaSenior Vice President, Antisense Drug Discovery
USANIH / National Cancer InstituteEdward L. TrimbleDirector, NCI Center for Global Health
USANIH / National Center for Advancing Translational SciencesChristopher P. Austin (Chair)Director
USA NIH/ National Eye InstituteSanta J. TumminiaAssociate Director for Strategic Science Initiatives & Programs and Project Officer
USANIH / National Human Genome Research InstituteLu WangProgram Director, Division of Genome Sciences
USANIH / National Institute of Arthritis and Musculoskeletal and Skin DiseasesStephen I. KatzDirector
USANIH / National Institute of Child Health and Human DevelopmentMelissa Parisi Chief of Intellectual and Developmental Disabilities Branch
USANIH / National Institute of Neurological Disorders and StrokeAdam HartmanProgram Director
USANIH / Office of Rare Diseases Research
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

 

Invited Patient Advocacy Groups

CountryOrganisationRepresentativeTitle
Europe Rare Diseases Europe- EURORDISBéatrice de MontleauBoard Member
USA Genetic AllianceSharon TerryPresident and CEO of Genetic Alliance, President EspeRare
USA National Organization for Rare Disorders, NORDPeter SaltonstallPresident and CEO

 

Members of the Scientific Committees

Members of the Diagnostics Scientific Committee (DSC)

NameTitle
Kym Boycott (Chair) Neurogeneticist and Investigator, 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
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, Division Chief, University of Washington, Seattle Children's Hospital, USA
Anthony BrookesProfessor in Bioinformatics and Genomics, Leicester University
Han G. Brunner Professor, Nijmegen University Hospital, Netherlands
Xavier Estivill Senior Investigator and Coordinator, Genomic Regulation Centre, Barcelona, Spain
Kenjiro KosakiProfessor of Medical Genetics Director, Center for Medical Genetics Keio University School of Medicine, Tokyo, Japan
Milan Macek Professor, Charles University Prague, Czech Republic
Gert Matthijs Professor, Head of Laboratory, University Hospital Leuven, Belgium
Hendrik StunnenbergProfessor and Head of Molecular Biology, Radboud University, Nijmegen, Netherlands
Yiming WangProfessor / Senior Advisor, Medical Genetics, BGI, Beijing, China
Feng ZhangDirector II, Translational Biosciences and Diagnostics, WuXi AppTec Co., Ltd., China

 

Members of the Interdisciplinary Scientific Committee (ISC)

NameTitle
Petra Kaufmann (Chair) Director, Division of Clinical Innovation NCATS and Director, Office of Rare Diseases Research, USA
Domenica Taruscio (Vice Chair) Director, Italian National Centre for Rare Diseases, Istituto Superiore di Sanità, Italy
Angel Carracedo Professor, 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, Genetic Services and the Familial Cancer Program of Western Australia
Stephen GroftEx-Director, Office of Rare Diseases Research, Senior Advisor, NCATS, USA
Ken IshiiDirector, Dep. Science Promotion, AMED, Tokyo, Japan
Edmund JessopMedical Advisor, NHS England, London, UK
Bartha Maria Knoppers Professor, Director of Centre of Genomics and Policy, McGill University, Canada
Jeffrey Krischer Professor, University of South Florida, USA
Hanns Lochmüller Professor, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
Samantha Parker Chief Patient Access/Public Affairs Officer, Lysogene, France
Rumen Stefanov Professor, Medical University of Plovdiv, Bulgaria

 

Members of the Therapies Scientific Committee (TSC)

NameTitle
Diego Ardigò (Chair)Project Leader, Advanced Therapy Medicinal Products (ATMP) and biologics, Chiesi Farmaceutici S.p.A., Italy
Annemieke Aartsma-RusProfessor, 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 NINDS, NIH, Associate Professor Georgetown University, USA
Michela GabaldoHead Alliance Management & Regulatory Affairs Manager at SR-TIGET San Rafaele Telethon Institute for gene therapy, Milan, Italy
Shuling GuoDirector, Ionis Pharmaceuticals, USA
Adam Heathfield Science Policy Director, Pfizer, UK
Virginie HivertTherapeutic Development Director, Rare Diseases Europe-EURORDIS, France
Yann Le CamChief Executive Officer, Rare Diseases Europe-EURORDIS, France
Sandrine Marreaud Head 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, Japan
Karin RademakerHead of sub-department Research & Development and Education of the Department Clinical Pharmacy, University Medical Centre, Utrecht, The Netherlands
Josep Torrent i Farnell Professor, Management Board of the Spanish Medicines Agency, 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