Member Organizations

IRDiRC members include:

  • Funding organizations (i.e., public and private funding bodies, groups of funders) investing more than 10 million USD over 5 years in rare disease research
  • Companies (i.e., Biotech, Pharma, MedTech, etc) investing more than 10 million USD over 5 years in rare disease research
  • Umbrella patient advocacy organizations representing broad patients’ interests for all rare diseases in at least one country or larger area
CountryOrganization RepresentativeTitle
USASanford ResearchDavid Pearce (Chair)President of Innovation, Research & World Clinic
FranceITALFARMACOSamantha Parker (Vice Chair)Patient Advocacy and Communication Lead Rare Disease Europe
USANational Institute of Neurological Disorders and Stroke (NINDS) part of U.S. National Institutes of Health (NIH)Adam HartmanProgram Director
USAIllumina, Inc.Adriana Huertas-VazquezSenior Director, Global Medical Affairs
FranceNational Institute of Health and Medical Research (INSERM)Catherine NguyenDirector of the Thematic Institute of the Genetics, Genomics and Bioinformatics
USAGlobal GenesCharlene Son RigbyCEO
CanadaCanadian Institutes of Health Research (CIHR)Christopher McMasterProfessor, Scientific Director
France Foundation for Rare DiseasesDaniel SchermanDirector
USA Nicklaus Children's HopitalDavid SeoSenior Vice President
USA Orphan Disease Center Deborah RequesensDirector, JumpStart Program
Orphan Disease Center, University of Pennsylvania
USAPfizerDenis KeohaneVP Global Global Medical Affairs in Rare Disease
ItalyChiesi Farmaceutici S.p.A.Diego ArdigòHead of Global Rare Diseases Research and Development
ItalyIstituto Superiore di Sanità (ISS)Domenica TaruscioDirector
CanadaRare Diseases International (RDI)Durhane Wong-RiegerChair of the RDI Council
BotswanaBotswana Organization for Rare Diseases (BORDIS)Eda SelebatsoFounder & Chairperson
SpainInstituto de Salud Carlos III (ISCIII)Eva Bermejo-SánchezDirector
USANational Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) part of U.S. National Institutes of Health (NIH)Faye H. ChenProgram Director, Rare Diseases and Integrated Physiology of Bone Program
Denmark UCBGabriella AlmbergGlobal Head Policy & Public Affairs, Rare Disease Organisation
BelgiumEuropean CommissionIrene NorstedtDirector - People Directorate
USARecursion Pharmaceuticals, IncJeanene Fogli Head of Patient Advocacy and External Collaboration
Canada Canadian Organization for Rare DisordersJida El HajjarBoard member
South KoreaKorea Disease Control and Prevention AgencyJiwon M. LeeDirector, Division of Rare Disease Management, Bureau of Chronic Disease Management
USANational Institute of Dental and Craniofacial Research (NIDCR) part of U.S. National Institutes of Health (NIH)Jason WanDirector, Mineralized Tissue Physiology Program
Integrative Biology and Infectious Diseases Branch
PeruIberoamerican Alliance for Rare Diseases (ALIBER)Karla Ruiz de CastillaSecretary of ALIBER and President of ESPERANTRA
USAFood and Drug Administration, Office of Orphan Products Development (FDA/OOPD)Katherine NeedlemanDirector, Orphan Products Grants Program FDA/OOPD
South AfricaRare Diseases South AfricaKelly du PlessisCEO & Founder
China Chinese Organization for Rare Disorders (CORD)Kevin HuangFounder & President
Australia Western Australian Department of HealthKristen NowakDirector, Office of Population Health Genomics; Western Australia Department of Health
USA Congressionally Directed Medical Research Programs (part of USAMRDC)Kristy LidieDeputy Director for Program Management
USATakeda PharmaceuticalsLaura Rosen Head, Neuroscience Translational Medicine
USA BiogenLewis Raynor Director Epidemiology
USANational Human Genome Research Institute (NHGRI) part of U.S. National Institutes of Health (NIH)Lisa ChadwickProgram Director, Division of Genome Sciences
BelgiumEuropean Federation of Pharmaceutical Industries and Associations (EFPIA)Magda ChlebusExecutive Director Science Policy and Regulatory Affairs
Rwanda Centre-Alliance for Rare Disease in Rwanda Manzi NdamukunzeConsultant
France French Muscular Dystrophy Association, AFM-TéléthonMarie-Christine OuilladeAFM Board of Directors, AFM International Committee
USANational Institute of Child Health and Human Development (NICHD) part of U.S. National Institutes of Health (NIH)Melissa ParisiChief of Intellectual and Developmental Disabilities Branch
AustraliaRare Voices AustraliaNicole MillisExecutive Officer
China Beijing Genomics Institute (BGI)Ning LiDirector
GeorgiaGeorgian Foundation for Genetic and Rare Diseases (GeRaD)Oleg KvlividzeCEO
USA National Organization for Rare Disorders (NORD)Pamela GavinExecutive Vice President
FranceAgence Nationale de la Recherche (ANR)Philippe BouvetHead of Biology & Health Department
USAOffice of Rare Diseases Research, National Center for Advancing Translational Sciences (NCATS) part of U.S. National Institutes of Health (NIH)Philip J. (PJ) BrooksDirector
Peru Federación Peruana de Enfermedades RarasPilar Estremadoyro ReyesVice-President
IndiaOrganization for Rare Diseases India (ORDI)Prasanna Kumar ShirolFounder, Director Board
GermanyFederal Ministry of Education and Research (BMBF)Ralph SchusterScientific Officer
IndiaIndian Organization for Rare Diseases (IORD)Ramaiah MuthyalaPresident and CEO
USA Chan Zuckerberg InitiativeRaquel PeckInternational Strategist, Rare As One Project
Ghana Rare Disease Ghana Initiative (RDGI)Samuel Agyei WiafeFounder/Executive Director
Canada Genome CanadaSapna MahajanDirector, Research and Innovation
USA Genetic AllianceSharon TerryPresident and CEO of Genetic Alliance, President of EspeRare
NetherlandsThe Netherlands Organisation for Health Research and Development (ZonMw)Sonja van WeelyScientific Officer, Sounding Board Group National Plan Rare Diseases
ItalyTelethon FoundationStefano BenvenutiHead of Public Affairs
CanadaGlobalSkinTammi ShipowickProgram Director
Belgium SanofiVinciane Pirard Lead Scientific Advocacy and Insights - Global Medical Affairs Rare Diseases
Europe EURORDIS - Rare Diseases EuropeVirginie HivertTherapeutic Development Director
JapanJapan Agency for Medical Research and Development (AMED)Susumu KusunokiProgram Supervisor
JapanAdvocacy Service for Rare and Intractable Diseases’ multi-stakeholders in Japan (ASrid)Yukiko NishimuraPresident
USA Alexion AstraZeneca Rare DiseaseWendy Erler Vice President of Patient Experience, STAR and Advocacy
SwitzerlandRocheWaiting for the nomination of the new representative
SwitzerlandUltragenyx Pharmaceutical Inc.Waiting for nomination of new representative
SingaporeAPARDOWaiting for nomination of new representative

For information on becoming an IRDiRC member thus represented in the Consortium Assembly and Constituent Committees (see section here), please consult the Become a Funding Member or the Become an Umbrella Patient Advocacy Member.

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