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Funded by an IRDiRC member =

Research projects

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

SPAIN

Comunidad Valenciana
VALENCIA

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberInvestigation of PTEN hamartoma tumor syndrome. Phenotypic spectrum, associated cancers, known molecular bases and search for new genes
Centro Nacional de Investigaciones Oncológicas (CNIO)
Unidad Clínica de Cáncer Familiar

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Identification of novel autosomal genes causing mental retardation
Universität Zürich
Institut für Medizinische Genetik

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

ISO - Investigation of Segmental Overgrowth
Addenbrooke's Hospital
University of Cambridge Metabolic Research Laboratories

UNITED KINGDOM

West Midlands
BIRMINGHAM

Funded by an IRDiRC memberPhenotyping of rare genetic overgrowth disorders (POD) study
Birmingham Women's NHS Foundation Trust
Regional Genetics Unit

FRANCE

PAYS DE LA LOIRE
ANGERS

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberWhole exome sequencing for the study of 30 children with developmental delay or moderate to severe
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Genómica Estructural y Funcional

SPAIN

Madrid
MADRID

Genetics of vascular and lymphatic malformations
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Malformaciones Vasculares

FRANCE

ILE-DE-FRANCE
ORSAY

DCD-CANC-CHILD: design of drug carrier and delivery control for cancer therapy of children
Université Paris-Sud
Institut de Chimie Moléculaire et des Matériaux d'Orsay

GERMANY

Baden-Württemberg
HEIDELBERG

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

GERMANY

Niedersachsen
HANNOVER

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

ITALY

LOMBARDIA
MILANO

RARECARE: surveillance of rare cancers in Europe (coordination)
Fondazione IRCCS Istituto Nazionale dei Tumori
S.S. di Epidemiologia Valutativa

SWITZERLAND

Suisse Alémanique
BASEL

Massively parallel sequencing for gene discovery in lethal fetal disorders
Universitätsspital Basel
Abteilung für Medizinische Genetik

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

Cambridgeshire
HINXTON

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

UNITED KINGDOM

Devon
EXETER

Exploring the Genetics of Renal Developmental Disease
Royal Devon and Exeter Hospital - Wonford site
Department of Urology

UNITED KINGDOM

Lothian
EDINBURGH

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

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

EPOC: European paediatric oncology off-patent medicines consortium (coordination)
Northern Institute for Cancer Research, Medical School, Newcastle University
Northern Institute for Cancer Research

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
Laboratorio di Genetica Medica

Multicentric Research projects