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Funded by an IRDiRC member =

Research projects

FRANCE

AUVERGNE-RHONE-ALPES
LYON

Funded by an IRDiRC memberDIVERCIL: Understanding cilia and flagella diversity - FR
Faculté de Médecine Lyon Est
Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217

FRANCE

GRAND-EST
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
Centre d'Investigation Clinique (CIC) de l'hôpital des Quinze-Vingts

FRANCE

OCCITANIE
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"

FRANCE

OCCITANIE
MONTPELLIER

Funded by an IRDiRC memberDeveloping and studying the effects of innovative therapies for rare inherited retinal disease using human retinal models derived from patient iPS cells
Hôpital Saint Eloi - Bâtiment INM
Equipe "Génétique et thérapie des cécités rétiniennes et du nerf optique"

IRELAND

County Dublin
DUBLIN

Target 5000: A Study of Inherited Retinal Degeneration
Mater Misericordiae Hospital
Ophthalmology Department

IRELAND

County Dublin
DUBLIN

Target 5000: A Study of Inherited Retinal Degeneration
Royal Victoria Eye and Ear Hospital
Ophthalmology Research Department

IRELAND

County Dublin
DUBLIN

Target 5000: A Study of Inherited Retinal Degeneration
Trinity College Dublin
Smurfit Institute of Genetics

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

IRELAND

County Dublin
DUBLIN

IRELAND

County Dublin
DUBLIN

Exploration of theraputic strategies for ocular disorders
Trinity College Dublin
Smurfit Institute of Genetics

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

PORTUGAL

NORTE
PORTO

SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Instituto de Biologia Molecular e Celular
Centro de Genética Preditiva e Preventiva

PORTUGAL

NORTE
PORTO

Clinical implications of genetic factors causing neurodegenerative diseases characterized by movement or cognitive dysfunction.
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

PORTUGAL

NORTE
PORTO

SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

PORTUGAL

NORTE
SANTA MARIA DA FEIRA

UNITED KINGDOM

Greater London
LONDON

Endogenous Cerebellar Human Stem Cells and their Potential Neuroregenerative Role in Inherited Ataxias
Barts and The London School of Medicine and Dentistry
Centre for Neuroscience and Trauma

UNITED KINGDOM

Lothian
EDINBURGH

Developing non-invasive therapeutic technology to improve motor coordination in cerebellar ataxias
PMARC - The University of Edinburgh
Perception-Movement-Action Research Consortium

UNITED KINGDOM

Lothian
EDINBURGH

Developing non-invasive therapeutic technology to improve motor coordination in cerebellar ataxias
School of Informatics, The University of Edinburgh
Human Communication Research Centre

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

GERMANY

Sachsen-Anhalt
MAGDEBURG

Funded by an IRDiRC memberEUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

SPAIN

Madrid
MADRID

UNITED KINGDOM

Cambridgeshire
HINXTON

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

UNITED STATES

Arizona
PHOENIX

Funded by an IRDiRC memberThe etiology of inherited neurological diseases
Phoenix Children's Hospital
Barrow Neurological Institute

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

Multicentric Research projects