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

Research projects

SPAIN

Madrid
MADRID

New diagnosis and therapy proposal for inborn errors of immunity (ICD): Optimization and use of genetic editing tools
Centro Nacional de Biotecnología (CNB-CSIC)
Grupo de Modelos animales para manipulación genética

SWEDEN

Region Stockholm
HUDDINGE

Gene and cell therapy for X-linked agammaglobulinemia
Karolinska Institutet
Department of laboratory medicine (LABMED)

BELGIUM

OOST-VLAANDEREN
GENT

Unraveling pathophysiologic and genetic causes of primary immune deficiencies with a focus on antibody disorders (common variable immunodeficiency= CVID) and disorders of anti-fungal immunity (chronic mucocutaneous candidiasis = CMC)
PID research lab (PIRL), UZ Gent - MRBII - Entrance 38
Center for Primary Immunodeficiencies Ghent, Jeffrey Modell Foundation diagnostic and research center

FINLAND

Finland
HELSINKI

Genetics of primary immunodeficiency diseases
HUS - Helsinki University Hospital

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

NORWAY

Østlandet
OSLO

Functional consequences of genetic variations in primary immunodeficiencies and immune dysregulation (FUNPID)
Oslo University Hospital, Rikshospitalet
Nasjonal behandlingstjeneste for screening av nyfødte og avansert laboratoriediagnostikk ved medfødte stoffskiftesykdommer

SPAIN

Cataluña
BARCELONA

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberCharacterization of the immunological alterations, specifically in Treg cells, involved in immune dysregulation in pediatric patients with inborn errors of immunity, towards targeted therapies
Hospital General Universitario Gregorio Marañón
Fundación para la Investigación Biomédica del Hospital Gregorio Marañón

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberWhole genome sequencing and variant prioritization by HPO terms in patients with primary immunodeficiencies with unknown molecular diagnosis
Instituto de Investigación Hospital 12 de Octubre
Fundación para la Investigación Biomédica del Hospital Universitario 12 de Octubre

SWEDEN

Region Stockholm
HUDDINGE

Genetic basis of immunodeficiency diseases
Karolinska Institutet
Department of laboratory medicine (LABMED)

SWITZERLAND

Suisse Alémanique
BASEL

The role of ZNF74 in the generation and maintenance of immunological memory
Universitätsspital Basel
Departement Biomedizin

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Pathophysiology of Inborn Immunodeficiencies
Institute for Regenerative Medicine
Department Gene and Cell Therapy

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Towards Identification of New Inborn Errors of Immunity by Whole Exome/Genome Sequencing
Institute for Regenerative Medicine
Department Gene and Cell Therapy

SWITZERLAND

Suisse Alémanique
ZÜRICH

Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Immunologie

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Funded by an IRDiRC memberNIHR BioResource - Rare Disease: PID - Primary Immune Disorders
Addenbrooke's Hospital
Department of Medicine - Renal services

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

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

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 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

Multicentric Research projects