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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
Third 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
NSEURONET: European network on Noonan syndrome and related disorders - FR
CHU Paris - Hôpital Robert Debré
UF de Génétique Moléculaire
GERMANY
Baden-Württemberg
ULM
GeNeRARe: German Network for RASopathies
Institute of Comparative Molecular Endocrinology der Universität Ulm
Cirstea Lab
GERMANY
Hamburg
HAMBURG
Identification of new disease genes for neuro-cardio-facio-cutaneous syndromes by whole exome sequencing and further investigation by functional analysis of pathogenic mutations
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik
GERMANY
Hamburg
HAMBURG
GeNeRARe: German Network for RASopathies
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik
GERMANY
Niedersachsen
GÖTTINGEN
GeNeRARe: German Network for RASopathies
Universitätsmedizin Göttingen
Klinik für Thorax-, Herz- und Gefäßchirurgie
GERMANY
Nordrhein-Westfalen
DÜSSELDORF
GeNeRARe: German Network for RASopathies
Heinrich-Heine-Universität Düsseldorf
Institut für Biochemie und Molekularbiologie II
GERMANY
Nordrhein-Westfalen
DÜSSELDORF
NSEuroNet 2: European network on noonan syndrome and related disorders -DE
Heinrich-Heine-Universität Düsseldorf
Institut für Biochemie und Molekularbiologie II
GERMANY
Sachsen-Anhalt
MAGDEBURG
GeNeRARe: German Network for RASopathies
Otto-von-Guericke-Universität Magdeburg
Abteilung Genetik & Molekulare Neurobiologie
GERMANY
Sachsen-Anhalt
MAGDEBURG
Identification of new disease genes for neuro-cardio-facio-cutaneous syndromes by whole exome sequencing and further investigation by functional analysis of pathogenic mutations
Universitätsklinikum Magdeburg A.ö.R
Institut für Humangenetik
GERMANY
Sachsen-Anhalt
MAGDEBURG
GeNeRARe: German Network for RASopathies
Universitätsklinikum Magdeburg A.ö.R
Institut für Humangenetik
GERMANY
Sachsen-Anhalt
MAGDEBURG
NSEuroNet 2: European network on noonan syndrome and related disorders -DE
Universitätsklinikum Magdeburg A.ö.R
Institut für Humangenetik
SWEDEN
Region Västerbotten
UMEÅ
Familial long QT syndrome and familial hypertrophic cardiomyopathy in Sweden: clinical, molecular, genetic and experimental studies
Umeå Universitet
Department of Public Health and Clinical Medicine
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
GENODERM: Development of a Genetic Analysis Method by Mendeliomes and Genomes in the Diagnosis of Genodermatoses and Rare Genetic Diseases With Cutaneous Expression
Hôpital Universitaire des Enfants Reine Fabiola - HUDERF
Dermatologie
CANADA
Colombie-Britannique
VICTORIA
Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
FRANCE
AUVERGNE-RHONE-ALPES
LYON
Characterization of 3D chromatin architecture disruption in chromosomal rearrangements to identify candidate genes in neurodevelopmental disorders
Faculté de Médecine Lyon Est
Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217
FRANCE
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
Analysis 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
Structural studies of cardiac myosin for therapeutical approaches against HCM
CLCC Institut Curie
Motilité structurale
FRANCE
ILE-DE-FRANCE
PARIS
Rho GTPases and rare skin diseases
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163
GERMANY
Sachsen-Anhalt
MAGDEBURG
EUROlinkCAT: 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
Andalucía
SEVILLA
Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling
Fundación Progreso y Salud
Área de bioinformática clínica
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
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau
Servicio de Genética
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
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Sant Joan de Déu Barcelona
Servicio de Laboratorio
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
First repository of methylation data from the Spanish reference population and improvement of the epigenetic study in patients with undiagnosed rare diseases (Epi-ENoD)
Hospital Universitario La Paz
SPAIN
Madrid
MADRID
Identification 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
Human Developmental Biology Resource (HDBR): an embryonic and fetal tissue bank for functional genetics and cell-based research
Newcastle University
Institute of Genetic Medicine
FRANCE
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Mechanosensitive ionic channels in zebrafish heart regeneration
Institution: Information not provided - FR
FRANCE
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Evaluation of FGF10 as a target for promoting adult cardiomyocyte proliferation after heart injury
Institution: Information not provided - FR
FRANCE
ILE-DE-FRANCE
PARIS
Neuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity
Institut National de la Santé et de la Recherche Médicale
ITALY
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SPAIN
Cataluña
BARCELONA
Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
Centro de Regulación Genómica
Centro Nacional de Análisis Genómico
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
Modelisation and Therapeutic Approaches for Rare Diseases
Université de médecine Aix-Marseille Université
Centre de Génétique de Marseille (Marseille Medical Genetics - MMG)
Multicentric Research projects
- Department of Health
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
- A.R. Genetica e Malattie Rare
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
- A.R. Genetica e Malattie Rare
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
- A.R. Genetica e Malattie Rare
- John Radcliffe Hospital
- Department of Cardiovascular Medicine
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- Istituto Dermopatico dell'Immacolata - IRCCS
- Laboratorio di Biologia Molecolare e Cellulare
- A.O.U. Policlinico "G. Martino"
- U.O.C. di Neuropsichiatria Infantile
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
- AP-HP. Centre - Université de Paris - HEGP Hôpital Européen Georges Pompidou
- Thérapie cellulaire en pathologie cardiovasculaire
UNITED KINGDOM
Greater London
LONDON
RASopathy network: disorders of the Ras-MAPK pathway
ITALY
LAZIO
ROMA
NsEuroNet: European network on Noonan syndrome and related disorders
ITALY
LAZIO
ROMA
NSEuroNet-2 : European network on noonan syndrome and related disorders
ITALY
LAZIO
ROMA
NSEURONET: European network on Noonan syndrome and related disorders
UNITED KINGDOM
Oxfordshire
OXFORD
BIG-HEART: bench-to-beside integrated approach to familial hypertrophic cardiomyopathy: to the heart of the disease (coordination)
GERMANY
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
ITALY
LAZIO
ROMA
GENESKIN: European network on rare genetic skin diseases
ITALY
SICILIA
MESSINA
CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics
NETHERLANDS
Gelderland
NIJMEGEN
GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated)
ITALY
VENETO
PADOVA
Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases
FRANCE
ILE-DE-FRANCE
PARIS