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Funded by an IRDiRC member = Member of a ERN =

Research projects

ITALY

CAMPANIA
CASERTA

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberUnveiling the genetic predisposition to an increased autoimmunity risk in patients with glycogen storage disease type 1b
AOU Università degli Studi della Campania "Luigi Vanvitelli"- Cappella Cangiani
Dipartimento di Medicina molecolare e Biotecnologie Mediche

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMolecular genetics of heritable human disorders
Institution: Information not provided - US

ITALY

LIGURIA
GENOVA

Molecular characterization of metabolic-genetic diseases
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

Funded by an IRDiRC memberPoLiMeR - Polymers in the Liver: Metabolism and Regulation - AT
Institution: Information not provided - AT

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

GERMANY

Baden-Württemberg
FREIBURG

Funded by an IRDiRC memberMyPred: Optimizing the Care of Young Individuals with Predisposition to Myeloid Neoplasia
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie

GERMANY

Baden-Württemberg
TÜBINGEN

Funded by an IRDiRC memberMyPred: Optimizing the Care of Young Individuals with Predisposition to Myeloid Neoplasia
Department für Innere Medizin - Medizinische Universitätsklinik Tübingen
Innere Medizin II - Onkologie, Hämatologie, Klinische Immunologie, Rheumatologie und Pulmologie

GERMANY

Hessen
FRANKFURT AM MAIN

Funded by an IRDiRC memberMyPred: Optimizing the Care of Young Individuals with Predisposition to Myeloid Neoplasia
Universitätsklinikum Frankfurt
Schwerpunkt Onkologie, Hämatologie und Hämostaseologie

GERMANY

Niedersachsen
HANNOVER

Funded by an IRDiRC memberMyPred: Optimizing the Care of Young Individuals with Predisposition to Myeloid Neoplasia
Medizinische Hochschule Hannover
Institut für Humangenetik

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Funded by an IRDiRC memberMyPred: Optimizing the Care of Young Individuals with Predisposition to Myeloid Neoplasia
Universitätsklinikum Düsseldorf
Klinik für Kinder-Onkologie, -Hämatologie und klinische Immunologie

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
OTTAWA

Funded by an IRDiRC memberEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario

CANADA

Ontario
OTTAWA, ONTARIO

Funded by an IRDiRC memberEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

CANADA

Ontario
TORONTO

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberThe Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

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
Fundación para la Investigación Biomédica del Hospital Universitario 12 de Octubre

SWEDEN

Region Stockholm
STOCKHOLM

Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

SWITZERLAND

Suisse Romande
LAUSANNE

Cardiac Manifestations in Adult Patients With Inherited Metabolic Disease: a Case Series
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont
CMM - Centre des Maladies Moléculaires

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

Funded by an IRDiRC memberBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

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 Universitetssykehus HF, Rikshospitalet
Nasjonal behandlingstjeneste for screening av nyfødte og avansert laboratoriediagnostikk ved medfødte stoffskiftesykdommer

SPAIN

Cataluña
BARCELONA

SWEDEN

Region Stockholm
HUDDINGE

Genetic basis of immunodeficiency diseases
Karolinska Institutet - Huddinge
Department of laboratory medicine

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

Multicentric Research projects