Orphanet: Search by disease/gene
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Funded by an IRDiRC member = Member of a ERN =

Research projects

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

CANADA

Colombie-Britannique
VICTORIA

Funded by an IRDiRC memberLong QT Syndrome in Northern British Columbia:Understanding the impact
University of Victoria
Community Genetics Research Program/Island Medical Program

FRANCE

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

JAPAN

JAPAN
AICHI

JAPAN

JAPAN
KYOTO

Funded by an IRDiRC memberDrug discovery targeted to alternative splicing variants in congenital long-QT syndrome
Kyoto University Graduate School of Medicine
Department of Cardiovascular Medicine

SWEDEN

Region Västerbotten
UMEÅ

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberModeling a rare autonomic disease
Institution: Information not provided - US

GERMANY

Baden-Württemberg
TÜBINGEN

Funded by an IRDiRC memberTreat-ION: New Therapies for Neurological Ion Channel and Transporter Disorders
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung für Neurologie mit Schwerpunkt Epileptologie

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC memberTreat-ION: New Therapies for Neurological Ion Channel and Transporter Disorders
Klinikum der Universität München
Institut für Schlaganfall- und Demenzforschung

GERMANY

Hamburg
HAMBURG

Funded by an IRDiRC memberTreat-ION: New Therapies for Neurological Ion Channel and Transporter Disorders
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

GERMANY

Nordrhein-Westfalen
BONN

Funded by an IRDiRC memberTreat-ION: New Therapies for Neurological Ion Channel and Transporter Disorders
DZNE-Standort Bonn
Deutsches Zentrum für Neurodegenerative Erkrankungen e. V.

GERMANY

Nordrhein-Westfalen
JÜLICH

Funded by an IRDiRC memberTreat-ION: New Therapies for Neurological Ion Channel and Transporter Disorders
Forschungszentrum Jülich GmbH
Institute of Complex Systems 4 (ICS-4) Zelluläre Biophysik

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberEstablishment of Integrated Genome Analysis Center for Hereditary Muscle Disease
National Center of Neurology and Psychiatry
Department of Neuromuscular Research

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberPredictive genetic testing in hereditary cardiac diseases: Evaluation of psycho-social impact and multidisciplinary management
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
Départements de génétique et de cardiologie - Centre de référence des maladies cardiaques héréditaires

BELGIUM

ANTWERPEN
ANTWERPEN

CANADA

Ontario
TORONTO

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
BRON

FRANCE

ILE-DE-FRANCE
EVRY

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCE

PAYS DE LA LOIRE
NANTES

Funded by an IRDiRC memberFROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

ITALY

VENETO
PADOVA

Funded by an IRDiRC memberThe role of Raptor/mTORC1 in adult skeletal muscle
Venetian Institute of Molecular Medicine
Dipartimento di Scienze Biomediche

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

SPAIN

Madrid
MADRID

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (coordination)
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

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

Multicentric Research projects