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Funded by an IRDiRC member =

Research projects

CANADA

Québec
MONTRÉAL

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

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberLEUKOTREAT: ethical impacts of therapeutic challenges in leukodystrophies (WP5) - FR
Centre Universitaire des Saints-Pères - Faculté de Médecine
Laboratoire d'éthique médicale et médecine légale

GERMANY

Berlin
BERLIN

Search and functional characterisation of genes in X-linked and autosomal recessive forms of mental retardation
Max-Planck-Institut für molekulare Genetik
Abteilung Human Molecular Genetics

GERMANY

Niedersachsen
GÖTTINGEN

Clinical and molecular characterization of genetically determined unclear white matter disorders
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberLEUKOTREAT: innovative gene and cell therapies in leukodystrophies (WP4) - IT
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Unità di Ricerca Clinica Pediatrica

SPAIN

País Vasco
BARAKALDO

FRANCE

ILE-DE-FRANCE
PARIS

Genetic fragmentation of the hereditary optic neuropathy nonsyndromic autosomal recessive and dominant
CHU Paris - Hôpital Necker-Enfants Malades
Laboratoire de Génétique Moléculaire

FRANCE

PAYS DE LA LOIRE
ANGERS

FRANCE

PAYS DE LA LOIRE
NANTES

In vivo modeling for the genetic diagnosis of intellectual disabilities
CHU de Nantes - Institut de Biologie
Laboratoire de génétique moléculaire

SPAIN

Comunidad Valenciana
VALENCIA

UNITED KINGDOM

Lothian
EDINBURGH

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

FRANCE

PAYS DE LA LOIRE
ANGERS

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

SPAIN

Madrid
MADRID

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberWhole exome sequencing for the study of 30 children with developmental delay or moderate to severe
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Genómica Estructural y Funcional

Multicentric Research projects