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Funded by an IRDiRC member =

Research projects

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

ITALY

TOSCANA
FIRENZE

Alterations in contraction and relaxation properties of cardiac sarcomeres in familial hypertrophic cardiomyopathy (HCM): study at single myofibril level
Azienda Ospedaliero Universitaria Careggi - NEUROFARBA
Centro Interuniversitario di Medicina Molecolare e Biofisica Applicata

SWEDEN

Västerbottens läns landsting
UMEÅ

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberPredictive genetic testing in hereditary cardiac diseases: Evaluation of psycho-social impact and multidisciplinary management
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Départements de génétique et de cardiologie, Centre de référence des maladies cardiaques héréditaires

SPAIN

Madrid
MADRID

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

Multicentric Research projects