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Funded by an IRDiRC member =

Research projects

GERMANY

Berlin
BERLIN

Funded by an IRDiRC memberEPISTOP: Long-term, Prospective Study Evaluating Clinical and Molecular Biomarkers of Epileptogenesis in a Genetic Model of Epilepsy - Tuberous Sclerosis Complex DE
Charité - Universitätsmedizin Berlin (CVK)
Sozialpädiatrisches Zentrum - Abteilung Neuropädiatrie/Entwicklungsneurologie/Neonatologie

FRANCE

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Funded by an IRDiRC memberGenCognition: Genetic basis of intellectual disability and other cognitive disorders
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

FRANCE

PAYS DE LA LOIRE
NANTES

In vivo modeling for the genetic diagnosis of intellectual disabilities
CHU de Nantes - Institut de Biologie
Laboratoire de génétique moléculaire

GERMANY

Baden-Württemberg
FREIBURG

Molecular epidemiology of cystic kidney disease
Universitätsklinikum Freiburg
Klinik für Innere Medizin IV - Sektion für präventive Medizin

GERMANY

Baden-Württemberg
FREIBURG

Polycystic Kidney Disease - from Model Organisms to Novel Therapies (KFO 201) -coordination
Zentrum für Klinische Forschung am Universitätsklinikum Freiburg
Nephro Lab - Walz Laboratory

GERMANY

Baden-Württemberg
FREIBURG

The role of planar cell polarity proteins in renal development (SFB 592)
Zentrum für Klinische Forschung am Universitätsklinikum Freiburg
Nephro Lab - Walz Laboratory

GERMANY

Niedersachsen
HANNOVER

Funded by an IRDiRC memberNEOCYST: Urinomics - Identification of biomarkers for cystic kidney diseases
Medizinische Hochschule Hannover
Klinik für Pädiatrische Nieren-, Leber- und Stoffwechselerkrankungen

GERMANY

Nordrhein-Westfalen
KÖLN

Funded by an IRDiRC memberNEOCYST: Molecular biology in cystic nephropathies
Universitätsklinikum Köln
Pädiatrische Nephrologie, Immunologie und Hypertensiologie

GERMANY

Nordrhein-Westfalen
MÜNSTER

Funded by an IRDiRC memberNEOCYST: Network of Early Onset Cystic Kidney Disease (coordination)
KfH Kuratorium für Dialyse und Nierentransplantation e.V.
KfH-Nierenzentrum für Kinder und Jugendliche

GERMANY

Nordrhein-Westfalen
MÜNSTER

Funded by an IRDiRC memberNEOCYST: Development of standard of care guidelines for cystic kidney disease
KfH Kuratorium für Dialyse und Nierentransplantation e.V.
KfH-Nierenzentrum für Kinder und Jugendliche

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Funded by an IRDiRC memberNEOCYST: Molecular genetics in cystic nephropathies
Bioscientia Institut für Medizinische Diagnostik GmbH
Labor Ingelheim mit Zentrum für Humangenetik

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

SFB 1140 (KIDGEM) : Identification of TULP3-mutations in patients with cystic kidney disease and related ciliopathies
Bioscientia Institut für Medizinische Diagnostik GmbH
Labor Ingelheim mit Zentrum für Humangenetik

ITALY

LOMBARDIA
PAVIA

Funded by an IRDiRC memberHigh resolution array-CGH and gene expression analyses in autism spectrum disorders
Università degli Studi di Pavia
Dipartimento di Genetica e Microbiologia

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberGenomic study of early-onset nephropathies
Fundació Puigvert
Laboratorio de Biología Molecular

SWEDEN

Stockholms läns landsting
STOCKHOLM

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

FRANCE

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Targeted high-throughput sequencing sequencing diagnostic strategy for autistim spectrum disorders with or without intellectual disability
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

FRANCE

ILE-DE-FRANCE
GENNEVILLIERS

Funded by an IRDiRC memberAnnouncement of a severe renal fetal pathology detected during pregnancy
Université de Cergy-Pontoise
Ecole, Mutations, Apprentissages

FRANCE

PAYS DE LA LOIRE
ANGERS

GERMANY

Baden-Württemberg
HEIDELBERG

Li-Fraumeni syndrome-cancer predisposition syndrome registry
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg

GERMANY

Hessen
MARBURG

Funded by an IRDiRC memberASD-NET: Autism spectrum disorder throughout the lifespan - More effective care through valid diagnoses and a better understanding of etiology
Universitätsklinik für Kinder- und Jugendpsychiatrie
Klinik für Kinder- und Jugendpsychiatrie, Psychosomatik und Psychotherapie

GERMANY

Niedersachsen
HANNOVER

Li-Fraumeni syndrome-cancer predisposition syndrome registry
Medizinische Hochschule Hannover
Klinik für Pädiatrische Hämatologie und Onkologie

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Funded by an IRDiRC memberASD-NET: Analysis of current disease-related costs and models of efficient care for autism spectrum disorders
Kliniken der Heinrich-Heine Universität Düsseldorf
Abteilung für Kinder- und Jugendpsychiatrie, Psychosomatik und Psychotherapie

IRELAND

County Dublin
DUBLIN

Irish Kidney Gene Project
Beaumont Hospital
Kidney Centre

ITALY

LOMBARDIA
RANICA

Funded by an IRDiRC memberEURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases - IT
Istituto di Ricerche Farmacologiche Mario Negri
Centro di Ricerche Cliniche per le Malattie Rare

NETHERLANDS

Gelderland
NIJMEGEN

EUNEFRON: rare disorders of the collecting dust (WP5)
Radboudumc - Radboud universitair medisch centrum
Afdeling Fysiologie

PORTUGAL

SUL
LISBOA

Noninvasive dynamic neuroimaging in epilepsy
Instituto Superior Técnico
LaSEEB-Evolutionary Systems and Biomedical Engineering Lab

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Funded by an IRDiRC memberNIHR BioResource - Rare Disease: MPMT - Multiple primary malignant tumours
Addenbrooke's Hospital
Academic Department of Medical Genetics

UNITED KINGDOM

Devon
EXETER

Funded by an IRDiRC memberThe role and regulation of Hepatocyte Nuclear Factor-1 Beta in man
Royal Devon and Exeter Hospital - Wonford site
Department of Urology

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

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

ITALY

LAZIO
ROMA

GENESKIN: European network on rare genetic skin diseases (coordination)
Istituto Dermopatico dell'Immacolata - IRCCS
Laboratorio di Biologia Molecolare e Cellulare

UNITED KINGDOM

Lothian
EDINBURGH

Genetic disorders of human brain development
Western General Hospital
MRC Human Genetics Unit

Multicentric Research projects