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

Research projects

BELGIUM

VLAAMS BRABANT
LEUVEN

Molecular and functional pathogenesis in NF1 and related diseases
UZ Leuven - Campus Gasthuisberg
Centrum Menselijke Erfelijkheid - UZ Leuven

FINLAND

Finland
TURKU

Clinical research study on neurofibromatosis type 1 in Finland
University of Turku
Institute of Biomedicine

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

Funded by an IRDiRC memberNeurofibromatosis type 1 Disease Model
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCE

ILE-DE-FRANCE
PARIS

Implementation of non-invasive prenatal diagnosis of rare and severe monogenic diseases
AP-HP.Centre - Université de Paris - Hôpital Cochin
Service de Médecine Génomique des Maladies de Systčme et d'Organe

SPAIN

Cataluńa
BADALONA

Funded by an IRDiRC memberImpact of cellular, genetic and epigenetic heterogeneity in the progression and treatment of peripheral nervous system tumors associated to Neurofibromatosis type 1
Instituto de Investigación Germans Trias i Pujol
Fundació Institut d'Investigació en Cičncies de la Salut Germans Trias i Pujol

SWITZERLAND

Suisse Romande
GENČVE

Non-cell-autonomous circadian regulation of brain function
UNIGE Université de Genčve
Département de Génétique et Evolution

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberTargeting tumors with nf1 loss
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMechanisms of nf1 pathophysiology underlying hyperactivity
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberSocial competence in youth with neurofibromatosis type 1
Institution: Information not provided - US

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberNSEURONET: European network on Noonan syndrome and related disorders - FR
CHU Paris - Hôpital Robert Debré
UF de Génétique Moléculaire

GERMANY

Baden-Württemberg
HEIDELBERG

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

GERMANY

Baden-Württemberg
ULM

Funded by an IRDiRC memberGeNeRARe: German Network for RASopathies
Institute of Comparative Molecular Endocrinology der Universität Ulm
Cirstea Lab

GERMANY

Hamburg
HAMBURG

Funded by an IRDiRC memberGeNeRARe: German Network for RASopathies
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik

GERMANY

Niedersachsen
GÖTTINGEN

Funded by an IRDiRC memberGeNeRARe: German Network for RASopathies
Universitätsmedizin Göttingen
Klinik für Thorax-, Herz- und Gefäßchirurgie

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 memberGeNeRARe: German Network for RASopathies
Heinrich-Heine-Universität Düsseldorf
Institut für Biochemie und Molekularbiologie II

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Funded by an IRDiRC memberNSEuroNet: European network on noonan syndrome and related disorders -DE
Heinrich-Heine-Universität Düsseldorf
Institut für Biochemie und Molekularbiologie II

GERMANY

Sachsen-Anhalt
MAGDEBURG

Funded by an IRDiRC memberGeNeRARe: German Network for RASopathies
Otto-von-Guericke-Universität Magdeburg
Abteilung Genetik & Molekulare Neurobiologie

GERMANY

Sachsen-Anhalt
MAGDEBURG

Funded by an IRDiRC memberNSEuroNet: European network on noonan syndrome and related disorders -DE
Universitätsklinikum Magdeburg A.ö.R
Institut für Humangenetik

AUSTRIA

WIEN
WIEN

Christian Doppler Laboratory for Next Generation CAR-T Cells
St. Anna Kinderkrebsforschung
Children's Cancer Research Institute

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberRho GTPases and rare skin diseases
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163

GERMANY

Baden-Württemberg
HEIDELBERG

Funded by an IRDiRC memberERA-NET TRANSCAN: BRCAddict - BRCAness as a therapeutic target for solid high-risk childhood tumors
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg

ITALY

VENETO
PADOVA

Funded by an IRDiRC memberModulating BMP axis to prevent muscle loss, dismantling of NMJ and denervation in cancer cachexia
Venetian Institute of Molecular Medicine
Fondazione per la ricerca Biomedica avanzata ONLUS

NORWAY

Řstlandet
OSLO

Diet, Gut Microbiota and Epigenetics - Identification of factors associated with successful dietary treatment of epilepsy in children
Oslo University Hospital, Ullevaal
NevSom - Nasjonalt kompetansesenter for nevroutviklingsforstyrrelser og hypersomier

NORWAY

Řstlandet
SANDVIKA

Theraputic drug monitoring of patients across the ages at a referral center
SSE - Spesialistsykehuset for epilepsi, Oslo University Hospital
NK-SE - Nasjonalt kompetansesenter for sjeldne epilepsirelaterte diagnoser

PORTUGAL

SUL
LISBOA

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

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberMechanistic models using Machine Learning for therapeutic targets discovery and drug repurposing in Rare Diseases
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

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)

IRELAND

County Dublin
DUBLIN

IRELAND

County Dublin
DUBLIN

Funded by an IRDiRC memberEnsemble averaging for complex disease prediction in the large p small n domain from multiple data sources
Trinity College Dublin
School of Computer Science and Statistcs - O'Reilly Institute

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberDiverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanitŕ
Centro Nazionale Malattie Rare

SPAIN

Cataluńa
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

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

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Multicentric Research projects