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Funded by an IRDiRC member = Member of a ERN =

Research projects

FRANCE

ILE-DE-FRANCE
VILLEJUIF

GERMANY

Niedersachsen
GÖTTINGEN

Development of therapeutic strategies for Rett syndrome
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberInnovative therapeutic approaches for Rett syndrome, a rare neurodevelopmental disorder of genetic origin
ISS - Istituto Superiore di Sanità
Centro di Riferimento per le Scienze Comportamentali e la Salute Mentale

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberCongenital Rett Syndrome cellular and mouse models for the study of FOXG1 impact on forebrain neurogenesis
IRCCS Ospedale San Raffaele
Fondazione Centro San Raffaele del Monte Tabor - Divisione di Medicina Rigenerativa Cellule Staminali e Terapia Genica (DMR)

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberExploiting whole-brain strategies of gene therapy and novel therapeutic targets in Rett syndrome mouse models
IRCCS Ospedale San Raffaele
Fondazione Centro San Raffaele del Monte Tabor - Divisione di Medicina Rigenerativa Cellule Staminali e Terapia Genica (DMR)

ITALY

TOSCANA
SIENA

Analysis of HLA genes to assess genetic susceptibility to vaccines as a component of the pathogenesis of Rett syndrome
Azienda Ospedaliera Universitaria Senese - Policlinico Santa Maria alle Scotte
U.O.C. di Genetica Medica

ITALY

TOSCANA
SIENA

Study protocol for the application of the test array-CGH in prenatal diagnosis in Rett syndrome
Azienda Ospedaliera Universitaria Senese - Policlinico Santa Maria alle Scotte
U.O.C. di Genetica Medica

ITALY

VENETO
PADOVA

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberMolecular basis research for exploring inovative therapies of Rett syndrome
National Center of Neurology and Psychiatry
Department of Mental Retardation and Birth Defect Research

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberComprehensive study for clinical support and making guideline of Rett syndrome and MECP2 duplication syndrome
National Center of Neurology and Psychiatry
Department of Mental Retardation and Birth Defect Research

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThalamocortical circuit defects in developmental brain disorders
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThe mechanism of rett syndrome rescue by astrocytes
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMitochondrial ros and microglia in rett syndrome
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberPhenotypic characterization of mecp2 mice
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

FINLAND

Finland
HELSINKI

GERMANY

Niedersachsen
GÖTTINGEN

Funded by an IRDiRC memberASD-NET: Autism Spectrum Disorders Network
Universitätsmedizin Göttingen
ZSEG - Zentrum für seltene Erkrankungen Göttingen

CANADA

Québec
SHERBROOKE

Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale

NORWAY

Østlandet
OSLO

Diet, Gut Microbiota and Epigenetics - Identification of factors associated with successful dietary treatment of epilepsy in children
Oslo University Hospital, Ullevaal
NevSom - Nasjonalt kompetansesenter for nevroutviklingsforstyrrelser og hypersomier

PORTUGAL

SUL
LISBOA

Noninvasive dynamic neuroimaging in epilepsy
Instituto Superior Técnico
LaSEEB-Evolutionary Systems and Biomedical Engineering Lab

SPAIN

Cataluña
SABADELL

SPAIN

Madrid
MADRID

CANADA

Ontario
TORONTO

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

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

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 memberA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

Multicentric Research projects