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Funded by an IRDiRC member =

Research projects

BELGIUM

OOST-VLAANDEREN
GENT

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
Recherche Clinique

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"

GERMANY

Hessen
MARBURG

Stimulation of the Globus Pallidus in NBIA: Prospective analysis of international treatment results and development of a therapeutic algorithm
Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
Klinik und Poliklinik für Neurologie

ITALY

LOMBARDIA
BRESCIA

Funded by an IRDiRC memberFunctional and epidemiological study of neuroferritinopathies: implications for the role of iron in neurodegenerative disorders
Università degli Studi di Brescia
Dipartimento Materno Infantile e Tecnologie Biomediche

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 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

SPAIN

Cataluña
BARCELONA

SPAIN

Comunidad Valenciana
VALENCIA

Neurodegeneration with Brain Iron Accumulation: Clinical Assessment and Genetic Characterization by means of a Spanish Multi-Centre Research Network
Centro de Investigación Príncipe Felipe (CIPF)
Laboratorio de Genética y Genómica de Enfermedades Neuromusculares

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberEnhancing diagnosis, prognosis and therapy of rare neurodegenerative diseases
Centro de Investigación Príncipe Felipe (CIPF)
Laboratorio de Genética y Genómica de Enfermedades Neuromusculares

SPAIN

Madrid
MADRID

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

UNITED STATES

Arizona
PHOENIX

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

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC memberRHAPSODY - Research to Assess Policies and Strategies for Dementia in the Young
Klinikum rechts der Isar der Technischen Universität München
Klinik und Poliklinik für Psychiatrie und Psychotherapie

GERMANY

Hessen
GIEßEN

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

SPAIN

Madrid
MADRID

UNITED KINGDOM

Lothian
EDINBURGH

Genetic disorders of human brain development
Western General Hospital
MRC Human Genetics Unit

GERMANY

Saarland
HOMBURG

Funded by an IRDiRC memberCoMMiTMenT: Combined Molecular Microscopy for Therapy and Personalized Medication in Rare Anaemias Treatments -DE-
Universitätsklinikum des Saarlandes
Institut für Molekulare Zellbiologie

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

NETHERLANDS

Utrecht
UTRECHT

Funded by an IRDiRC memberCoMMiTMenT: Combined Molecular Microscopy for Therapy and Personalized Medication in Rare Anaemias Treatments - NL
UMC Utrecht - Universitair Medisch Centrum Utrecht
Laboratorium voor Rode Bloedcel Onderzoek

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberCoMMiTMenT: Combined Molecular Microscopy for Therapy and Personalized Medication in Rare Anaemias Treatments - ES
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Grupo de investigación en fisiopatología y bases moleculares en hematología

CANADA

Ontario
TORONTO

Multicentric Research projects