Orphanet: Search by disease/gene
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Terminated research projects = Funded by an IRDiRC member = Member of a ERN =

Research projects

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Molecular characterisation of HRPT2 gene in subjects affected by familial primary hyperparathyroidism from parathyroid carcinoma
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
U.O.C. Genetica Medica

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMolecular genetics of endocrine tumors and related disorders
Institution: Information not provided - US

GERMANY

Baden-Württemberg
HEIDELBERG

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

GERMANY

Bayern
AUGSBURG

GERMANY

Niedersachsen
HANNOVER

GERMANY

Niedersachsen
HANNOVER

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

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

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

GERMANY

Baden-Württemberg
FREIBURG

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

SPAIN

Cataluña
BARCELONA

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación en Neurogenética y Medicina Molecular

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular

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

Multicentric Research projects