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Funded by an IRDiRC member =

Research projects

FINLAND

Finland
HELSINKI

Funded by an IRDiRC memberMechanisms of tumor predisposition in colorectal cancer syndromes stratified by mismatch repair status
University of Helsinki
Department of Medical and Clinical Genetics

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

GRAND-EST
STRASBOURG

Bardet-Biedl syndrome: new genes identification and biological characterization of a new gene BBS10
Faculté de médecine de Strasbourg - Louis Pasteur
Laboratoire de génétique médicale - Unité Inserm U1112

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

OCCITANIE
MONTPELLIER

Physiopathological study of gastrointestinal smooth muscle and Chronic Intestinal Pseudo-Obstruction (CIPO)
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Laboratoire "Physiologie et Médecine Expérimentale du Coeur et des Muscles" - INSERM U1046 / CNRS UMR9214

FRANCE

OCCITANIE
MONTPELLIER

Funded by an IRDiRC memberPAPIS: Pediatric and Adult Plasticity of Intestinal SMCs - FR
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Laboratoire "Physiologie et Médecine Expérimentale du Coeur et des Muscles" - INSERM U1046 / CNRS UMR9214

FRANCE

OCCITANIE
MONTPELLIER

Funded by an IRDiRC memberFunction of LIX1 and its interacting partner during digestive smooth muscle plasticity
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Laboratoire "Physiologie et Médecine Expérimentale du Coeur et des Muscles" - INSERM U1046 / CNRS UMR9214

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

GERMANY

Berlin
BERLIN

Identification of molecular mechanisms acting at the jObes1 locus in the Berlin Fat Mouse with effect on juvenile fat deposition
Humboldt-Universität zu Berlin
Fachbereich Züchtungsbiologie und molekulare Genetik

JAPAN

JAPAN
FUKUOKA

Funded by an IRDiRC memberEstablishment of high evidence level for revision of guideline ofAllied Disorders of Hirschsprung's disease
Kyushu University Faculty of Medical Sciences
Department of Pediatric Surgery

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

NETHERLANDS

Zuid-Holland
LEIDEN

Mosaic APC mutations in patients with mild polyposis phenotypes
LUMC - Leids Universitair Medisch Centrum
Afdeling Klinische Genetica

SPAIN

Andalucía
SEVILLA

Funded by an IRDiRC memberBiomedical research and clinical innovation in hereditary retinal dystrophies: towards personalized medicine in rare diseases
Hospital Universitario Virgen del Rocío
Unidad de Medicina Maternofetal, Genética y Reproducción

SPAIN

País Vasco
BARAKALDO

Hepatic steatosis in heredetary fructose intolerance
Hospital Universitario Cruces - Osakidetza
Unidad de Trastornos Congénitos del Metabolismo

SWEDEN

Stockholms läns landsting
STOCKHOLM

Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

UNITED KINGDOM

Greater London
LONDON

UNITED KINGDOM

West Midlands
BIRMINGHAM

EURO-WABB: EURO-Rare Diabetes Project (coordination)
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberAnalysis of dominant megacolon: another hirschsprung disease model
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic epidemiology of complex diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberCilium-associated structures in rod cells
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberFunction of c8orf37 in photoreceptors
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberTargeting jak3 in the treatment of autoimmune disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberNeuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberPhysiology; psychology; and genetics of obesity
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic analysis of hirschsprung disease
Institution: Information not provided - US

FINLAND

Finland
HELSINKI

Funded by an IRDiRC memberDevelopment og gene and cell therapy for APECED
HUS - Helsinki University Hospital
Skin and Allergy Hospital

FINLAND

Finland
HELSINKI

GERMANY

Baden-Württemberg
FREIBURG

GERMANY

Baden-Württemberg
FREIBURG

Funded by an IRDiRC memberLRBA deficiency: clinical phenotype, biological pathomechanisms and murine model
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

GERMANY

Baden-Württemberg
FREIBURG

Funded by an IRDiRC memberGAIN: Immunological, functional and genetic analyses in CTLA-4 insufficiency (SP 4)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

GERMANY

Baden-Württemberg
FREIBURG

Funded by an IRDiRC memberGAIN: Safety and effectiveness of Abatacept in patients with CTLA4 insufficiency and LRBA deficit (ABACHAI) (SP11)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

ITALY

LAZIO
ROMA

Study of the pathogenesis of autoimmune phenomena in primary immunodeficiencies
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
U.O. di Immunoinfettivologia Pediatrica

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Multicentric Research projects