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Funded by an IRDiRC member =

Research projects

CANADA

Québec
MONTRÉAL

Funded by an IRDiRC memberInborn errors of cobalamin and folate metabolism
Glen / McGill Univeristy Health Centre - Centre Universitaire de santé McGill
Génétique médicale - Medical Genetics

FINLAND

Finland
HELSINKI

Molecular genetics of epilepsy syndromes
Folkhälsan
The Folkhälsan Institute of Genetics

ITALY

LOMBARDIA
MILANO

Functional study of epileptogenic na+ channel mutations in transfected neurons and animal models
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Dipartimento di Neurofisiopatologia ed Epilettologia Diagnostica

PORTUGAL

SUL
LISBOA

Noninvasive dynamic neuroimaging in epilepsy
Instituto Superior Técnico
LaSEEB-Evolutionary Systems and Biomedical Engineering Lab

UNITED KINGDOM

Lothian
EDINBURGH

Genetic disorders of human brain development
Western General Hospital
MRC Human Genetics Unit

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

NORD-PAS-DE-CALAIS
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

GERMANY

Saarland
HOMBURG

Funded by an IRDiRC memberCoMMiTMenT: Combined Molecular Microscopy for Therapy and Personalized Medication in Rare Anaemias Treatments -DE-
Universitätsklinikum des Saarlandes
Institut für Molekulare Zellbiologie

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

NETHERLANDS

Utrecht
UTRECHT

Funded by an IRDiRC memberCoMMiTMenT: Combined Molecular Microscopy for Therapy and Personalized Medication in Rare Anaemias Treatments - NL
UMC Utrecht - Universitair Medisch Centrum Utrecht
Laboratorium voor Rode Bloedcel Onderzoek

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberCoMMiTMenT: Combined Molecular Microscopy for Therapy and Personalized Medication in Rare Anaemias Treatments - ES
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Grupo de investigación en fisiopatología y bases moleculares en hematología

SWEDEN

Stockholms läns landsting
STOCKHOLM

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

UNITED KINGDOM

Oxfordshire
BEGBROKE

CANADA

Ontario
TORONTO

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

Multicentric Research projects