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Funded by an IRDiRC member =

Research projects

ITALY

VENETO
VERONA

BELGIUM

OOST-VLAANDEREN
GENT

FRANCE

ALSACE
STRASBOURG

Retinis Pigmentosa: validation of the molecular diagnostic using next generation sequencing
CHU de Strasbourg - Hôpital Civil
Laboratoire de diagnostic génétique

FRANCE

ILE-DE-FRANCE
PARIS

Epidemiological study in hereditary dystrophies of retina
Institut de la Vision
Recherche Clinique

FRANCE

LANGUEDOC-ROUSSILLON
MONTPELLIER

Gene therapy of retinal dystrophy on human models: differentiation of patients iPS cells to retinal cells
Hôpital Saint Eloi - Bâtiment INM
Equipe "Génétique et thérapie des cécités rétiniennes et du nerf optique"

SPAIN

Andalucía
SEVILLA

Funded by an IRDiRC memberGenomic approaches for rare conditions: Inherited Retinal Dystrophies as a model
Hospital Universitario Virgen del Rocío
Unidad de Gestión Clínica Medicina Maternofetal, Genética y Reproducción

SPAIN

Cataluña
BARCELONA

Design of a genetic diagnostic chip for retinal dystrophies
Universitat de Barcelona. Facultat de Biologia
Departamento de Genética

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Funded by an IRDiRC memberActive BRIDGE Studies - Specialist Pathology: Evaluating Exomes in Diagnostics (SPEED)
Wellcome Trust/MRC Building
Cambridge Institute for Medical Research

GERMANY

Hessen
GIEßEN

Diagnosis and therapy of hereditary retinal diseases
Augenklinik des UKGM am Standort Gießen
Klinik und Poliklinik für Augenheilkunde

GERMANY

Niedersachsen
HANNOVER

Intrauterine development of energy metabolism
Medizinische Hochschule Hannover
Arbeitsgruppe Stoffwechselerkrankungen und Neuropädiatrie

SPAIN

Madrid
MADRID

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

CANADA

Ontario
OTTAWA, ONTARIO

Funded by an IRDiRC memberEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

FINLAND

Finland
HELSINKI

Funded by an IRDiRC memberGRiP: Global Research in Paediatrics -FI-
HUSLAB
Poison Information Centre

FINLAND

Finland
HELSINKI

FRANCE

NORD-PAS-DE-CALAIS
LILLE

ID2STOP Orphan : InDividualized Drug Selection Technology for Orphan Patients
Faculté des Sciences Pharmaceutiques et Biologiques de Lille
APTEEUS: le patient au coeur de la découverte de son traitement

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
Laboratorio di Genetica Medica

ITALY

LIGURIA
GENOVA

New technologies and new strategies for neonatal screening
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio per lo Studio degli Errori Congeniti del Metabolismo

SWEDEN

Stockholms läns landsting
STOCKHOLM

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

UNITED KINGDOM

Oxfordshire
BEGBROKE

Multicentric Research projects