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Funded by an IRDiRC member = Member of a ERN =

Research projects

AUSTRIA

WIEN
WIEN

Circulating Tumour Cells: Companion Diagnostics in Platinum-Sensitive Ovarian Cancer?
Allgemeines Krankenhaus der Stadt Wien
Universitätsklinik für Frauenheilkunde

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
LA TRONCHE

NOX NADPH oxydases in inflammatory response: physiopathological aspects, regulation mechanism and modeling
Université Grenoble Alpes (UGA) - Campus santé
GREPI : Groupe de Recherche et d'Etudes du Processus Inflammatoire

FRANCE

AUVERGNE-RHONE-ALPES
LA TRONCHE

Validation of a new concept of cell therapy by transfer of proteins in enzymopathies: application to the Chronic septic granulomatosis
Université Grenoble Alpes (UGA) - Campus santé
GREPI : Groupe de Recherche et d'Etudes du Processus Inflammatoire

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

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberARMED: Antioxidant treatment as a novel therapeutic option for microvillus inclusion disease - FR
IMAGINE - Institut des Maladies Génétiques
Laboratoire d'Immunité Intestinale

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

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Funded by an IRDiRC memberIdentification of new genes associated with syndromic congénital diarrhea syndrome
Université de médecine Aix-Marseille Université
Centre de Génétique de Marseille (Marseille Medical Genetics - MMG)

GERMANY

Baden-Württemberg
FREIBURG

GERMANY

Berlin
BERLIN

NOGGO ov46: NIRACTIV-NIRaparib health research study to evaluate quality of life and ACTIVity in patients undergoing maintenance therapy in ovarian cancer
Charité - Universitätsmedizin Berlin (CVK)
Nord-Ostdeutsche Gesellschaft für Gynäkologische Onkologie

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

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberImproving quality standards in Italian laboratories performing genetic testing for rare diseases
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALY

LOMBARDIA
MILANO

Pathogenesis and therapy of chronic granulomatous disease by gene transfer into hematopoietic stem cells
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Unità di Ricerca Clinica

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 memberIntratumoral heterogeneity in t-sarcomas: A silver lining for precision therapeutics
Hospital Universitario Virgen del Rocío
FISEVI - Fundación Pública Andaluza para la gestión de la Investigación en Sevilla

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

Cataluña
BARCELONA

Germline predisposition to serrated polyposis syndrome: functional characterization of candidate genes by CRISPR/CAS and organoid modeling
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Grupo de investigación en Predisposición genética al cáncer gastrointestinal

SPAIN

Cataluña
LLEIDA

Funded by an IRDiRC memberMicrovillus inclusion disease, Drug nanoformulations, Myo5b knockout mouse models, Gut organoids, Induced pluripotent stem cells (IPSC), Intestinal failure, Antioxidant treatment
Instituto de Investigación Biomédica de Lleida (IRBLLEIDA)
Instituto de Investigación Biomédica de Lleida - IRBLLEIDA

SPAIN

Galicia
VIGO

Funded by an IRDiRC memberMolecular mechanisms in ciliopathies
Universidade de Vigo
Grupo de Enfermedades raras

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberAdvanced molecular diagnosis of adenomatous polyposis type X: analysis of genetic mosaicism
Hospital Clínico San Carlos
Laboratorio de oncología molecular

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberValidation of cell cycle biomarkers for biliary atresia diagnosis
IdiPAZ - Instituto de Investigación Sanitaria del Hospital Universitario La Paz
Fundación para la Investigación Biomédica del H.U. La Paz

SPAIN

País Vasco
BARAKALDO

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

SWEDEN

Region Stockholm
STOCKHOLM

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

SWITZERLAND

Suisse Romande
LAUSANNE

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

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

AUSTRIA

NIEDERÖSTERREICH
KLOSTERNEUBURG

AUSTRIA

WIEN
WIEN

Funded by an IRDiRC memberEuroTCLym - Translational Research in Peripheral T-Cell Lymphomas: from characterization to novel targets - AT
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Hämatologie und Hämostaseologie

CANADA

Ontario
TORONTO

Funded by an IRDiRC memberDeciphering the Role of UBR1 E3 Ubiquitin Ligase using a C. elegans Model
Mount Sinai Hospital
Lunenfeld-Tanenbaum Research Institute

CANADA

Ontario
TORONTO

Funded by an IRDiRC memberFunctional Dissection of Small RNA Pathways that Impact Chromatin
University of Toronto
Department of Molecular Genetics

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

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

FRANCE

BOURGOGNE-FRANCHE-COMTE
DIJON

Noninvasive prenatal aneuploidy testing by targeted massively parallel sequencing of maternal plasma
CHU de Dijon - Plateau technique de Biologie
Laboratoire de génétique chromosomique et moléculaire

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberTARID: Thymic Abnormalities in Rare Immunological Diseases - FR
Institut de la Vision
Centre de Recherche Institut de la Vision

FRANCE

OCCITANIE
MONTPELLIER

Funded by an IRDiRC memberExploiting epigenome editing in Kabuki syndrome: a new route towards gene therapy for rare genetic disorders
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Equipe Maladies Génétiques de l'Enfant et de l'Adulte

FRANCE

OCCITANIE
MONTPELLIER

GERMANY

Baden-Württemberg
FREIBURG

Discovery and Evaluation of new Combined Immunodeficiency Disease Entities (DECIDE)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

GERMANY

Baden-Württemberg
FREIBURG

Funded by an IRDiRC memberGAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

GERMANY

Baden-Württemberg
TÜBINGEN

ESPED-study: Omphaloceles and Associated Malformations in Preterm and Term Newborns
Universitätsklinik für Kinder- und Jugendmedizin Tübingen
Abteilung für Neonatologie

GERMANY

Hamburg
HAMBURG

Molecular and functional investigation on microphthalmia with linear skin defects (MLS) - syndrome
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik

GERMANY

Niedersachsen
GÖTTINGEN

GERMANY

Niedersachsen
HANNOVER

Funded by an IRDiRC memberGAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
Medizinische Hochschule Hannover
Klinik für Rheumatologie und Immunologie

GERMANY

Schleswig-Holstein
KIEL

Funded by an IRDiRC memberGAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Klinik für Innere Medizin I

ITALY

LAZIO
ROMA

Deletion of KDM6A a histone demethylase interacting with MLL2 in Three patients with Kabuki Syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica

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

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

ITALY

LAZIO
ROMA

Deletion of KDM6A a histone demethylase interacting with MLL2 in Three patients with Kabuki Syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
UOS Genetica Medica

ITALY

LAZIO
ROMA

Clinical and molecular characterization of genetic syndromes with congenital heart disease
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
U.O.C. Laboratorio di Genetica Medica

ITALY

LIGURIA
GENOVA

Funded by an IRDiRC memberTargeting aberrant Cl- homeostasis and GABAergic transmission in Down syndrome to design innovative therapeutic approaches
Istituto Italiano di Tecnologia
Dipartimento di Neuroscience e Tecnologie del Cervello

NETHERLANDS

Gelderland
NIJMEGEN

TREATCilia: Novel Therapeutic Avenues for dynein-related Ciliopathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica

SPAIN

Baleares
PALMA DE MALLORCA

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberTranscriptomic and secretomic profiles after extended culture of human euploid and chromosome 21 aneuploid embryos
Hospital Universitario y Politécnico La Fe
Fundación para la Investigación del Hospital Universitari La Fe

SWITZERLAND

Suisse Romande
GENÈVE

SWITZERLAND

Suisse Romande
LAUSANNE

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberClinical and molecular studies of malformations
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: 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 memberPrdm16 function in neural development
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenes for non-syndromic congenital heart disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic modifiers of congenital heart disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMouse functional analysis of genes for congenital heart disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 1: genetic mechanisms for conotruncal heart malformations
Institution: Information not provided - US

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Expression profiling studies in tumors by using DNA microarrays
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
U.O.C. Genetica Medica

PORTUGAL

NORTE
PORTO

Study of SDH alterations in GIST
Instituto de Patologia e Imunologia Molecular da Universidade do Porto
Grupo de Oncobiologia

PORTUGAL

NORTE
PORTO

Study of mTOR pathway in GISTs
Instituto de Patologia e Imunologia Molecular da Universidade do Porto
Grupo de Oncobiologia

Multicentric Research projects