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Research projects
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
ADDRESS: NOT PROVIDED - BE
eCare-22q11.2 - Evaluating Parent Perceptions, Economic Burden and the Impact of Online Coaching Interventions for Parents of Children Diagnosed with the 22q11 Deletion Syndrome -BE
Institution: Information not provided - BE
CANADA
Québec
ADDRESS: NOT PROVIDED - CA
eCare-22q11.2 - Evaluating Parent Perceptions, Economic Burden and the Impact of Online Coaching Interventions for Parents of Children Diagnosed with the 22q11 Deletion Syndrome -CA
Institution: Information not provided - CA
CANADA
Québec
MONTRÉAL
The genetic basis of atypical anomalies in contiguous gene syndrome: The case of 22q11.2
Montreal Children's Hospital Research Institute - McGill University
Department of Pediatrics / Département de pédiatrie
GERMANY
Sachsen-Anhalt
HALLE (SAALE)
eCare-22q11.2 - Evaluating Parent Perceptions, Economic Burden and the Impact of Online Coaching Interventions for Parents of Children Diagnosed with the 22q11 Deletion Syndrome -DE
Martin-Luther-Universität Halle-Wittenberg
Profilzentrum Gesundheitswissenschaften
ITALY
LAZIO
ROMA
Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica
SPAIN
Cataluña
BARCELONA
Detection of structural genetic factors modifying the phenotype in a population with congenital defects
Vall d'Hebron Institut de Recerca VHIR
Vall d'Hebron Institut de Recerca
SWITZERLAND
Suisse Romande
ADDRESS: NOT PROVIDED - CH
eCare-22q11.2 - Evaluating Parent Perceptions, Economic Burden and the Impact of Online Coaching Interventions for Parents of Children Diagnosed with the 22q11 Deletion Syndrome -CH
Institution: Information not provided - CH
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Systematic whole genome analyses of the cardiopharyngeal gene regulatory network in a simple chordate.
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Genes for non-syndromic congenital heart disease
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Genetic modifiers of congenital heart disease
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Mouse functional analysis of genes for congenital heart disease
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Project: genetic basis of intellectual disability in 22q11.2 deletion syndrome
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Project 1: genetic mechanisms for conotruncal heart malformations
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Integrated Microphysiological System of Cerebral Organoid and Blood Vessel for Disease Modeling and Neuropsychiatric Drug screening
Institution: Information not provided - US
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
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
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
ITALY
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
NORWAY
Østlandet
OSLO
Oversettelse og pilotutprøving av online intervensjonsprogram for ungdom
Oslo University Hospital, Rikshospitalet
SSD - Senter for sjeldne diagnoser
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
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
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
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
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
BELGIUM
OOST-VLAANDEREN
GENT
Unraveling pathophysiologic and genetic causes of primary immune deficiencies with a focus on antibody disorders (common variable immunodeficiency= CVID) and disorders of anti-fungal immunity (chronic mucocutaneous candidiasis = CMC)
PID research lab (PIRL), UZ Gent - MRBII - Entrance 38
Center for Primary Immunodeficiencies Ghent, Jeffrey Modell Foundation diagnostic and research center
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
FINLAND
Finland
HELSINKI
Genetics of primary immunodeficiency diseases
HUS - Helsinki University Hospital
FRANCE
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
Nutrient transporters: a new tool for characterization of hematopoietic progenitors with optimal transplantation potential
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
GERMANY
Niedersachsen
HANNOVER
German Centre for Infection Research: Infections of the immunocompromised Host - Investigation of genetic susceptibility and identification of diagnostic biomarkers of infection control
Medizinische Hochschule Hannover
Abteilung für Virologie
ITALY
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
NORWAY
Østlandet
OSLO
Functional consequences of genetic variations in primary immunodeficiencies and immune dysregulation (FUNPID)
Oslo University Hospital, Rikshospitalet
Nasjonal behandlingstjeneste for screening av nyfødte og avansert laboratoriediagnostikk ved medfødte stoffskiftesykdommer
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
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
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
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
SPAIN
Cataluña
BARCELONA
Integrating genome and transcriptome profiling for the identification of novel genetic basis of primary immunodeficiencies
Vall d'Hebron Institut de Recerca VHIR
Vall d'Hebron Institut de Recerca
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
Characterization of the immunological alterations, specifically in Treg cells, involved in immune dysregulation in pediatric patients with inborn errors of immunity, towards targeted therapies
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
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
ADDRESS: NOT PROVIDED - ES
Characterization of the immunological alterations, specifically in Treg cells, involved in immune dysregulation in pediatric patients with inborn errors of immunity, towards targeted therapies
Institution: Information not provided - ES
SPAIN
Madrid
MADRID
Characterization of the immunological alterations, specifically in Treg cells, involved in immune dysregulation in pediatric patients with inborn errors of immunity, towards targeted therapies
Hospital General Universitario Gregorio Marañón
Fundación para la Investigación Biomédica del Hospital Gregorio Marañón
SPAIN
Madrid
MADRID
Whole genome sequencing and variant prioritization by HPO terms in patients with primary immunodeficiencies with unknown molecular diagnosis
Instituto de Investigación Hospital 12 de Octubre
Fundación para la Investigación Biomédica del Hospital Universitario 12 de Octubre
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
SWEDEN
Region Stockholm
HUDDINGE
Genetic basis of immunodeficiency diseases
Karolinska Institutet
Department of laboratory medicine (LABMED)
SWITZERLAND
Suisse Alémanique
BASEL
The role of ZNF74 in the generation and maintenance of immunological memory
Universitätsspital Basel
Departement Biomedizin
SWITZERLAND
Suisse Alémanique
SCHLIEREN
Pathophysiology of Inborn Immunodeficiencies
Institute for Regenerative Medicine
Department Gene and Cell Therapy
SWITZERLAND
Suisse Alémanique
SCHLIEREN
Towards Identification of New Inborn Errors of Immunity by Whole Exome/Genome Sequencing
Institute for Regenerative Medicine
Department Gene and Cell Therapy
SWITZERLAND
Suisse Alémanique
ZÜRICH
Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Immunologie
UNITED KINGDOM
Cambridgeshire
CAMBRIDGE
NIHR BioResource - Rare Disease: PID - Primary Immune Disorders
Addenbrooke's Hospital
Department of Medicine - Renal services
FRANCE
BOURGOGNE-FRANCHE-COMTE
DIJON
Detection of chromosomal abnormalities and mutations by high throughput sequencing
CHU de Dijon - Plateau technique de Biologie
Laboratoire de génétique chromosomique et moléculaire
GERMANY
Baden-Württemberg
FREIBURG
Optical genome mapping in addition to cytogenetic characterization based on apparently balanced chromosome translocations
Institut für Humangenetik am Universitätsklinikum Freiburg
Institut für Humangenetik
GERMANY
Thüringen
JENA
ChromoSomics - Database: Collection and characterisation of cases with a small supernumerary marker chomosome with the goal of a genotype phenotype correlation
Institut für Humangenetik am Universitätsklinikum Jena
Institut für Humangenetik
ITALY
LAZIO
ROMA
Improving quality standards in Italian laboratories performing genetic testing for rare diseases
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SWEDEN
Region Stockholm
SOLNA
Chromosomal anomaly
Karolinska Universitetssjukhuset
Department of Clinical Genetics
Multicentric Research projects
- Institution: Information not provided - CA
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- Institut für Humangenetik der Universität Göttingen
- Institut für Humangenetik
- Max-Planck-Institut für Multidisziplinäre Naturwissenschaften
- Abteilung Molekulare Neurobiologie
- CCI am Universitätsklinikum Freiburg
- Centrum für Chronische Immundefizienz
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- A.O.U. Policlinico "G. Martino"
- U.O.C. di Neuropsichiatria Infantile
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- CCI am Universitätsklinikum Freiburg
- Centrum für Chronische Immundefizienz
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
- Lunds Universitet
- Department of Experimental Medical Science
- Istituto San Raffaele Telethon per la Terapia Genica - TIGET
- Istituto San Raffaele Telethon per la Terapia Genica
CANADA
Québec
ADDRESS: NOT PROVIDED - CA
eCare-22q11.2 - Analysis of psychosocial well-being, quality of life, socioeconomic burden, and efficacy/cost-effectiveness of online coaching interventions for families with children with 22q11.2 deletion syndrome
ITALY
CAMPANIA
NAPOLI
22q11.2 deletion syndrome: Novel approaches to understand cardiopharyngeal pathogenesis
GERMANY
Niedersachsen
GÖTTINGEN
CRANIRARE: An integrated clinical and scientific approach for craniofacial malformations
GERMANY
Niedersachsen
GÖTTINGEN
EUROSPIN: European consortium on synaptic protein networks in Neurological and Psychiatric diseases
GERMANY
Baden-Württemberg
FREIBURG
EuroCID: Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge
GERMANY
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
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)
GERMANY
Baden-Württemberg
FREIBURG
EURO-PADNET: the pathophysiology and natural course of patients with Primary Antibody Deficiencies
ITALY
VENETO
PADOVA
Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases
SWEDEN
Region Skåne
LUND
IDR: ImmunoDeficiency Resource
ITALY
LOMBARDIA
MILANO