Orphanet: Search by disease/gene
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Funded by an IRDiRC member = Member of a ERN =

Research projects

FRANCE

NORMANDIE
ROUEN

CANADA

Alberta
EDMONTON

Funded by an IRDiRC memberMolecular mechanisms of organelle inheritance
University of Alberta
Department of Cell Biology

CANADA

Ontario
TORONTO

CANADA

Québec
MONTRÉAL

Funded by an IRDiRC memberThe Peroxisome Biogenesis Disorders: From Bench to Bedside
Glen / McGill Univeristy Health Centre - Centre Universitaire de santé McGill
Medical Genetics - Génétique Médicale

CANADA

Québec
MONTRÉAL

Funded by an IRDiRC memberGetting Ready for Vision Therapy in Peroxisome Biogenesis Disorders
The Research Institute of the McGill University Health Centre

CANADA

Québec
MONTRÉAL

Longitudinal Natural History Study of Patients with Peroxisome Biogenesis Disorders (PBD)
The Research Institute of the McGill University Health Centre

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberPeroxisome biogenesis disorders (pbds)
Institution: Information not provided - US

CANADA

Québec
MONTRÉAL

Clinical, radiological and genetic characterization of new forms of leukodystrophies
Montreal Children's Hospital Research Institute - McGill University
Pediatric Neurodegenerative Laboratory

GERMANY

Niedersachsen
GÖTTINGEN

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

CANADA

Ontario
OTTAWA

Funded by an IRDiRC memberEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberThe Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberDiverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

SPAIN

Madrid
MADRID

SWEDEN

Region Stockholm
STOCKHOLM

Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

SWITZERLAND

Suisse Alémanique
ZÜRICH

Identification and Validation of Relevant Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThe physiology of adrenal insufficiency
Institution: Information not provided - US

CANADA

Ontario
TORONTO

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCE

PAYS DE LA LOIRE
NANTES

Funded by an IRDiRC memberFROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

Multicentric Research projects