Orphanet: Search by disease/gene
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Funded by an IRDiRC member =

Research projects

GERMANY

Baden-Württemberg
FREIBURG

GERMANY

Baden-Württemberg
FREIBURG

Funded by an IRDiRC memberEuroCID: Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge - DE (Koordination)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

GERMANY

Baden-Württemberg
ULM

Funded by an IRDiRC memberEuroCID: Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge - DE (Partner No 2)
DRK Baden-Württemberg/ Hessen
Abteilung Molekulare Diagnostik, Molekulare Therapie und Experimentelle Transplantation

FRANCE

ILE-DE-FRANCE
PARIS

Identification of causative genes for familial dilated cardiomyopathies and of susceptibility genes for non familial forms of the disease
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
Physiopathologie, génétique et pharmacologie du remodelage cardiovasculaire

FRANCE

ILE-DE-FRANCE
PARIS

Identification of causative genes for familial dilated cardiomyopathies and of susceptibility genes for non familial forms of the disease
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
Départements de génétique et de cardiologie - Centre de référence des maladies cardiaques héréditaires

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

FINLAND

Finland
HELSINKI

Genetics of primary immunodeficiency diseases
HUS - Helsinki University Hospital

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

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

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

SWEDEN

Region Stockholm
HUDDINGE

Genetic basis of immunodeficiency diseases
Karolinska Institutet - Huddinge
Department of laboratory medicine

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

Funded by an IRDiRC memberNIHR BioResource - Rare Disease: PID - Primary Immune Disorders
Addenbrooke's Hospital
Department of Medicine - Renal services

UNITED KINGDOM

Cambridgeshire
HINXTON

The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER

CANADA

Ontario
TORONTO

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

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

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 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

Multicentric Research projects