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Terminated research projects = Funded by an IRDiRC member = Member of a ERN =

Research projects

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberdissection of molecular bases of myhre syndrome : identification of new genes in pre-screened patients
IMAGINE - Institut des Maladies Génétiques
Equipe "Bases moléculaires et physiopathologiques des chondrodysplasies"

ITALY

LAZIO
ROMA

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica

ITALY

LAZIO
ROMA

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
A.R. Genetica e Malattie Rare

CANADA

Québec
SHERBROOKE

Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale

AUSTRIA

OBERÖSTERREICH
LINZ

EuRR-Bone: European Registry for Rare Bone and Mineral Conditions - AT
Kepler Universitätsklinikum - Med Campus IV.
Universitätsklinik für Kinder- und Jugendheilkunde

CANADA

Ontario
OTTAWA, ONTARIO

Funded by an IRDiRC memberDetection and simulation of femoroacetabular impingement
University of Ottawa
School of Electrical Engineering and Computer Science (EECS)

FRANCE

AUVERGNE-RHONE-ALPES
LYON

FRANCE

BOURGOGNE-FRANCHE-COMTE
DIJON

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

SPAIN

Cataluña
SABADELL

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

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

SPAIN

Cataluña
BARCELONA

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona
Programa de investigación en Enfermedades no transmisibles y medio ambiente

SPAIN

Madrid
MADRID

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberIdentification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

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