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Funded by an IRDiRC member =

Research projects

CYPRUS

Cyprus
NICOSIA

Epidemiology of congenital adrenal hyperplasias
The Cyprus Institute of Neurology and Genetics
Molecular Genetics, Function & Therapy

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Gene therapy for the most severe cases of congenital adrenal hyperplasia
CHU Paris-Sud - Hôpital de Bicêtre
Service d'Endocrinologie et Diabète de l'Enfant

FRANCE

ILE-DE-FRANCE
VILLEJUIF

Funded by an IRDiRC memberTransition Platforms: Understanding the Expectations of Parents of Young People with Rare Diseases
CLCC Institut Gustave Roussy
Equipe Epidémiologie des radiations, épidémiologie clinique des cancers et survie

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Adrenal stem cells: identification, generation and culture for genetic modification
Université de Nice Sophia-Antipolis - Faculté des sciences
Génétique du développement normal et pathologique

ITALY

LOMBARDIA
PAVIA

SWEDEN

Stockholms läns landsting
STOCKHOLM

Molecular and clinical studies of bladder exstrophy and congenital adrenal hyperplasia
Karolinska Institutet - Solna
Department of Women's and Children's Health

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberContinuous subcutaneous hydrocortisone infusion treatment for cah
Institution: Information not provided - US

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

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

JAPAN

JAPAN
ADDRESS : NOT PROVIDED - JP

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 memberThe physiology of adrenal insufficiency
Institution: Information not provided - US

SWEDEN

Stockholms läns landsting
STOCKHOLM

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

SWITZERLAND

Suisse Alémanique
BASEL

Massively parallel sequencing for gene discovery in lethal fetal disorders
Universitätsspital Basel
Abteilung für Medizinische Genetik

UNITED KINGDOM

Cambridgeshire
HINXTON

The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER

Multicentric Research projects