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Terminated research projects = Funded by an IRDiRC member =
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Research projects

Washington
ADDRESS: NOT PROVIDED - US
Investigation of the roles for cav1.2 in non-excitable tissue during development
Institution: Information not provided - US

Colombie-Britannique
VICTORIA
Long QT Syndrome in Northern British Columbia:Understanding the impact
University of Victoria
Community Genetics Research Program/Island Medical Program

ILE-DE-FRANCE
PARIS
Phenotypic and genetic studies on long QT syndrome, familial
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
Service de cardiologie - Rythmologie

PAYS DE LA LOIRE
NANTES
LQTS-NEXT: To the NEXT level of risk prediction in patients with Long QT Syndrome - FR
Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

Hamburg
HAMBURG
LQTS-NEXT : To the NEXT level of risk prediction in patients with Long QT Syndrome - Deep Learning -DE (partner 2)
Syte Capital GmbH

Nordrhein-Westfalen
MÜNSTER
LQTS-NEXT : To the NEXT level of risk prediction in patients with Long QT Syndrome - Risk prediction -DE (partner 1)
Universitätsklinikum Münster
Institut für Genetik von Herzerkrankungen

LOMBARDIA
MILANO
LQTS-NEXT: To the NEXT level of risk prediction in patients with Long QT Syndrome - IT
Auxologico Pier Lombardo
Centro per lo Studio e la Cura delle Aritmie Cardiache di Origine Genetica

LOMBARDIA
MILANO
SILENCELQTS: SGK1 inhibition as a novel therapeutic approach in Long QT syndrome - IT
Auxologico Pier Lombardo
Centro per lo Studio e la Cura delle Aritmie Cardiache di Origine Genetica

Region Stockholm
SOLNA
Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet
Department of Molecular Medicine and Surgery (MMK)

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

Suisse Alémanique
BERN
Co-regulation of cardiac ion channels: focus on the sodium channel Nav1.5
Universität Bern
Institute of Biochemistry and Molecular Medicine (IBMM)

Washington
ADDRESS: NOT PROVIDED - US
Modeling a rare autonomic disease
Institution: Information not provided - US

Finland
HELSINKI
Neurobiology of autism spectrum disorders modeled on patient-specific stem cells.
University of Helsinki
Department of Physiology

Bayern
MÜNCHEN
Characterization of the arrhythmia substrates in hereditary in comparison to non-hereditary arrhythmogenic cardiomyopathy by cardiac magnetic resonance imaging
Helios Klinikum München West
Klinik für Kardiologie und Internistische Intensivmedizin

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

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

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

Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

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

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)

LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

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

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

Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia

Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética

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

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

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

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

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
Multicentric Research projects
- Amsterdam UMC, locatie AMC
- Afdeling Cardiologie
- Amsterdam UMC, locatie AMC
- Afdeling Cardiologie
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Max-Planck-Institut für Multidisziplinäre Naturwissenschaften
- Abteilung Molekulare Neurobiologie
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
- AP-HP. Centre - Université de Paris - HEGP Hôpital Européen Georges Pompidou
- Thérapie cellulaire en pathologie cardiovasculaire

Noord-Holland
AMSTERDAM
LQTS-NEXT: To the NEXT level of risk prediction in patients with Long QT Syndrome

Noord-Holland
AMSTERDAM
SILENCELQTS: SGK1 inhibition as a novel therapeutic approach in Long QT syndrome

Gelderland
NIJMEGEN
GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated)

Niedersachsen
GÖTTINGEN
EUROSPIN: European consortium on synaptic protein networks in Neurological and Psychiatric diseases

VENETO
PADOVA
Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases

ILE-DE-FRANCE
PARIS