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Funded by an IRDiRC member =

Research projects

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Funded by an IRDiRC memberPathophysiology of the Costello Syndrome: study in mice and cell models
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme

GERMANY

Baden-Württemberg
ULM

UNITED KINGDOM

Greater Manchester
MANCHESTER

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberNsEuroNet: European network on noonan syndrome and related disorders - FR
CHU Paris - Hôpital Robert Debré
UF de Génétique Moléculaire

FRANCE

OCCITANIE
TOULOUSE

Funded by an IRDiRC memberNsEuroNet: European network on noonan syndrome and related disorders - FR
CHU de Toulouse - Hôpital Rangueil
Institut des Maladies Métaboliques et Cardiovasculaires

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

GERMANY

Sachsen-Anhalt
MAGDEBURG

Funded by an IRDiRC memberGeNeRARe: Neurobiology and neurocognitive function in mouse models of RASpathies
Otto-von-Guericke-Universität Magdeburg
Abteilung Genetik & Molekulare Neurobiologie

GERMANY

Sachsen-Anhalt
MAGDEBURG

NsEuroNet: European network on noonan syndrome and related disorders (partner no 2) - DE
Universitätsklinikum Magdeburg A.ö.R
Institut für Humangenetik

GERMANY

Sachsen-Anhalt
MAGDEBURG

Funded by an IRDiRC memberGeNeRARe: German Network for RASopathies (coordination)
Universitätsklinikum Magdeburg A.ö.R
Institut für Humangenetik

ITALY

LAZIO
ROMA

NsEuroNet: European network on Noonan syndrome and related disorders (coordination) - IT
IRCCS Ospedale Pediatrico Bambino Gesù
A.R. Genetica e Malattie Rare

SPAIN

Comunidad Valenciana
VALENCIA

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Identification of novel autosomal genes causing mental retardation
Universität Zürich
Institut für Medizinische Genetik

FRANCE

PAYS DE LA LOIRE
ANGERS

GERMANY

Baden-Württemberg
HEIDELBERG

Li-Fraumeni syndrome-cancer predisposition syndrome registry
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg

GERMANY

Niedersachsen
HANNOVER

Li-Fraumeni syndrome-cancer predisposition syndrome registry
Medizinische Hochschule Hannover
Klinik für Pädiatrische Hämatologie und Onkologie

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberAnalysis of the myocardial-flow interaction in patients with hypertrophic myocardiopathy of genetic cause
IISGM - Instituto de Investigación Sanitaria Gregorio Marañón
Grupo de investigación en historia natural de la enfermedad cardíaca

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

SWEDEN

Västerbottens läns landsting
UMEÅ

SWITZERLAND

Suisse Alémanique
BASEL

Massively parallel sequencing for gene discovery in lethal fetal disorders
Universitätsspital Basel
Abteilung für Medizinische Genetik

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Funded by an IRDiRC memberNIHR BioResource - Rare Disease: MPMT - Multiple primary malignant tumours
Addenbrooke's Hospital
Academic Department of Medical Genetics

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberPredictive genetic testing in hereditary cardiac diseases: Evaluation of psycho-social impact and multidisciplinary management
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Départements de génétique et de cardiologie, Centre de référence des maladies cardiaques héréditaires

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

Asturias
OVIEDO

SPAIN

Galicia
A CORUÑA

Funded by an IRDiRC memberStudy of cardiac extracellular matrix proteins involved in the development of ischemic heart disease, idiopathic dilated cardiomyopathy or hypertrophic cardiomyopathy
INIBIC - Instituto de Investigación Biomédica de A Coruña
Grupo de investigación en Biomarcadores cardíacos

SPAIN

Madrid
MADRID

UNITED KINGDOM

Cambridgeshire
HINXTON

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

UNITED KINGDOM

Devon
EXETER

Exploring the Genetics of Renal Developmental Disease
Royal Devon and Exeter Hospital - Wonford site
Department of Urology

UNITED KINGDOM

Lothian
EDINBURGH

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

UNITED KINGDOM

Greater London
LONDON

Funded by an IRDiRC memberStructural studies of proteins involved in neurodegenerative and muscular diseases 2
Institute of Psychiatry - King's College London
MRC Centre for Neurodegeneration Research

Multicentric Research projects