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Funded by an IRDiRC member =

Registries and Biobanks

ITALY

LIGURIA
GENOVA

MODY: Italian registry of maturity onset diabetes of the young
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio di Diabetologia

NETHERLANDS

Zuid-Holland
LEIDEN

LOVD-MD: GCK gene (glucokinase) variant database
LUMC - Leids Universitair Medisch Centrum
Laboratorium voor Diagnostische Genoomanalyse

NETHERLANDS

Zuid-Holland
LEIDEN

LOVD-MD: HNF1A gene (HNF1 homeobox A) variant database
LUMC - Leids Universitair Medisch Centrum
Laboratorium voor Diagnostische Genoomanalyse

NETHERLANDS

Zuid-Holland
LEIDEN

LOVD-MD: HNF4A gene (hepatocyte nuclear factor 4, alpha) variant database
LUMC - Leids Universitair Medisch Centrum
Laboratorium voor Diagnostische Genoomanalyse

FRANCE

AUVERGNE-RHONE-ALPES
BRON

French cohort of rare diabetes (neonatal diabetes, monogenic, atypical and syndromic forms)
CHU de Lyon HCL - GH Est
Service d'endocrinologie pédiatrique, diabétologie et métabolisme

FRANCE

ILE-DE-FRANCE
PARIS

French cohort of rare diabetes (neonatal diabetes, monogenic, atypical and syndromic forms)
U.F.R. de Médecine Paris Diderot - Paris 7 - Site Villemin
Génétique du diabète de type 1 et des diabètes monogéniques

AUSTRIA

TIROL
INNSBRUCK

Austrian Country Node of the Human Variome Project (HVP)
Medizinische Universität Innsbruck
Zentrum Medizinische Genetik Innsbruck

DENMARK

Sjælland
COPENHAGEN

Mendelian cytogenetics network online database
The Panum Institute-University of Copenhagen
Department of Cellular and Molecular Medicine

ESTONIA

Tartu
TARTU

Biobank of the Estonian genome center
Tartu University Hospital
Centre of Genetics - United laboratories

ITALY

LIGURIA
GENOVA

Cell line and DNA Biobank from patients affected by genetic diseases
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio di Diagnosi Pre-Postnatale Malattie Metaboliche

ITALY

LIGURIA
GENOVA

Funded by an IRDiRC memberTelethon Network of Genetic Biobanks
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio di Diagnosi Pre-Postnatale Malattie Metaboliche

KOREA, REPUBLIC OF

KOREA, REPUBLIC OF
SEOUL

Funded by an IRDiRC memberKorean Mutation Database for Rare Diseases
Seoul National University Hospital
Molecular Diagnostics Laboratory

MOROCCO

Rabat
RABAT

Moroccan National Genetic Database
Institut National d'Hygiène
Département de génétique médicale

SPAIN

Comunidad Valenciana
VALENCIA

SPAIN

Madrid
MADRID

BioNER: Biobank of the Institute of Rare Diseases Research/Institute of Health Carlos III
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras

SPAIN

País Vasco
BARAKALDO

Funded by an IRDiRC memberBasque Biobank
BIOEF - Fundación Vasca de Innovación e Investigación Sanitarias
Biobanco Vasco

Networks of registries and biobanks

ITALY

LIGURIA
GENOVA

TELETHON NETWORK OF GENETIC BIOBANKS
  • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
  • Laboratorio di Diagnosi Pre-Postnatale Malattie Metaboliche