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Terminated research projects = Funded by an IRDiRC member = Member of a ERN =

Research projects

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

2020-2019-HUM-ADULT: Characterisation of the clinical picture of adults with rare genetic syndromes
Heinrich-Heine-Universität Düsseldorf
Institut für Humangenetik

SPAIN

Murcia
MURCIA

Funded by an IRDiRC memberThird generation sequencing, in vitro and in vivo functional characterization and drug repositioning screening in Ectodermal Dysplasias
Hospital General Universitario Reina Sofía
Fundacion para la Formacion e Investigacion Sanitarias de la Region de Murcia

CANADA

Québec
SHERBROOKE

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

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

GERMANY

Baden-Württemberg
ULM

Funded by an IRDiRC memberGeNeRARe: German Network for RASopathies
Institute of Comparative Molecular Endocrinology der Universität Ulm
Cirstea Lab

GERMANY

Hamburg
HAMBURG

Funded by an IRDiRC memberGeNeRARe: German Network for RASopathies
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik

GERMANY

Niedersachsen
GÖTTINGEN

Funded by an IRDiRC memberGeNeRARe: German Network for RASopathies
Universitätsmedizin Göttingen
Klinik für Thorax-, Herz- und Gefäßchirurgie

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Funded by an IRDiRC memberGeNeRARe: German Network for RASopathies
Heinrich-Heine-Universität Düsseldorf
Institut für Biochemie und Molekularbiologie II

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Funded by an IRDiRC memberNSEuroNet 2: European network on noonan syndrome and related disorders -DE
Heinrich-Heine-Universität Düsseldorf
Institut für Biochemie und Molekularbiologie II

GERMANY

Sachsen-Anhalt
MAGDEBURG

Funded by an IRDiRC memberGeNeRARe: German Network for RASopathies
Otto-von-Guericke-Universität Magdeburg
Abteilung Genetik & Molekulare Neurobiologie

GERMANY

Sachsen-Anhalt
MAGDEBURG

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

GERMANY

Sachsen-Anhalt
MAGDEBURG

Funded by an IRDiRC memberNSEuroNet 2: European network on noonan syndrome and related disorders -DE
Universitätsklinikum Magdeburg A.ö.R
Institut für Humangenetik

SWEDEN

Region Västerbotten
UMEÅ

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

FRANCE

AUVERGNE-RHONE-ALPES
LYON

FRANCE

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Funded by an IRDiRC memberAnalysis of parental genomes in individuals with intellectual disability without pathogenic mutation identified by solo WGS 
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

FRANCE

ILE-DE-FRANCE
PARIS

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberRho GTPases and rare skin diseases
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163

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

NORWAY

Østlandet
OSLO

Nordic HCM-register
Oslo University Hospital, Rikshospitalet
Nasjonal behandlingstjeneste for kirurgisk behandling ved kraniofaciale misdannelser

SPAIN

Cataluña
BARCELONA

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación en Neurogenética y Medicina Molecular

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberIdentification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Funded by an IRDiRC memberMechanosensitive ionic channels in zebrafish heart regeneration
Institution: Information not provided - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

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

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
BARCELONA

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona
Programa de investigación en Enfermedades no transmisibles y medio ambiente

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Funded by an IRDiRC memberModelisation and Therapeutic Approaches for Rare Diseases
Université de médecine Aix-Marseille Université
Centre de Génétique de Marseille (Marseille Medical Genetics - MMG)

Multicentric Research projects