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Funded by an IRDiRC member =

Research projects

ITALY

LIGURIA
GENOVA

Molecular characterization of metabolic-genetic diseases
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio di Diagnosi Pre-Postnatale Malattie Metaboliche

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Biomarker for Glycogen Storage Diseases (BioGlycogen): An International, multicentre, epidemiological protocol
Albrecht-Kossel-Institute for Neuroregeneration (AKos)
Albrecht-Kossel-Institut für Neurodegeneration

ITALY

SICILIA
MESSINA

Funded by an IRDiRC memberBuilding a nation-wide italian collaborative network for muscle glycogenoses: registry and natural history
A.O.U. Policlinico "G. Martino"
U.O.C. di Neurologia e Malattie Neuromuscolari

GERMANY

Baden-Württemberg
HEIDELBERG

Funded by an IRDiRC memberEURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases - DE
Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
Klinik Kinderheilkunde I - Nephrologisches Labor

NETHERLANDS

Gelderland
NIJMEGEN

Funded by an IRDiRC memberEURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases - NL
Radboudumc - Radboud universitair medisch centrum
Afdeling Fysiologie

NETHERLANDS

Utrecht
UTRECHT

Funded by an IRDiRC memberEURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases - NL
UMC Utrecht - Universitair Medisch Centrum Utrecht
Polikliniek Genetica

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

FRANCE

HAUTS-DE-FRANCE
LILLE

ID2STOP Orphan : InDividualized Drug Selection Technology for Orphan Patients
Faculté des Sciences Pharmaceutiques et Biologiques de Lille
APTEEUS: le patient au coeur de la découverte de son traitement

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
Laboratorio di Genetica Medica

ITALY

LIGURIA
GENOVA

New technologies and new strategies for neonatal screening
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio per lo Studio degli Errori Congeniti del Metabolismo

SWEDEN

Stockholms läns landsting
STOCKHOLM

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

UNITED KINGDOM

Oxfordshire
BEGBROKE

FINLAND

Finland
HELSINKI

Genetics of primary immunodeficiency diseases
Biomedicum Helsinki 2U
Institute for Molecular Medicine Finland

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC memberPID- Net: German Network on Primary Immunodeficiency Diseases (coordination)
Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital
Care-for-Rare Center (CRCHauner)

GERMANY

Berlin
BERLIN

Funded by an IRDiRC memberPID-NET: Primary immunodeficiencies predisposing to severe bacterial infections
Otto-Heubner-Centrum für Kinder- und Jugendmedizin
Klinik für Pädiatrie mit Schwerpunkt Pneumologie und Immunologie

GERMANY

Niedersachsen
HANNOVER

SPAIN

Madrid
MADRID

Precision medicine in Primary Immunodeficiencies: deciphering new genetic etiologies by means of "omic" approaches
IdiPAZ - Instituto de Investigación Sanitaria del Hospital Universitario La Paz
Grupo de respuesta inmune innata

SWEDEN

Stockholms läns landsting
HUDDINGE

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

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

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

Multicentric Research projects