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Funded by an IRDiRC member =

Registries and Biobanks

FRANCE

AUVERGNE-RHONE-ALPES
BRON

French cohort of rare diabetes (neonatal diabetes, monogenic, atypical and syndromic forms)
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
Service d'endocrinologie et de diabétologie pédiatriques et maladies héréditaires du 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
INSERM UMR_S958 "Génétique des Diabètes"

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Registre Central des Maladies Rares / Centraal Register Zeldzame Ziekten
Sciensano
Health Services Research - Rare Diseases

FRANCE

ILE-DE-FRANCE
CLICHY

French patient registry affected by genetic deafness in France
CHU Paris Nord-Val de Seine - Hôpital Beaujon
Service d'oto-rhino-laryngologie

FRANCE

ILE-DE-FRANCE
PARIS

French National Registry for Rare Diseases (BNDMR)
AP-HP Campus Picpus - Département WIND (Web Innovation Données)
Banque Nationale de Données Maladies Rares (BNDMR)

ITALY

CALABRIA
CATANZARO

SPAIN

Madrid
MADRID

ECEMC: Registry of the Spanish Collaborative Study of Congenital Malformations
ISCIII - Instituto de Salud Carlos III
Centro de Investigación sobre Anomalías Congénitas

SWITZERLAND

Suisse Alémanique
ST. GALLEN

Swiss Diabetes Registry (SwissDiab)
Kantonsspital St. Gallen
Klinik für Allgemeine Innere Medizin/Hausarztmedizin

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 Centre
Institute of Genomics of University of Tartu
The Estonian Genome Centre

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberERN [Endo-ERN] - EuRRECa: European Registries for Rare Endocrine Conditions
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
Délégation à la Recherche Clinique et à l'Innovation de l'AP-HP

ITALY

LIGURIA
GENOVA

Cell line and DNA Biobank from patients affected by genetic diseases
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

ITALY

LIGURIA
GENOVA

Funded by an IRDiRC memberTelethon Network of Genetic Biobanks
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle 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

CIBERER Biobank (Biobank of rare diseases)
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en biomedicina molecular, celular y genómica

SPAIN

Comunidad Valenciana
VALENCIA

CIBERER Biobank (Biobank of rare diseases)
INCLIVA
Grupo de investigación en Fisiopatología celular y orgánica del estrés oxidativo

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

GERMANY

Bayern
MÜNCHEN

MitoP2: Mitochondrial Proteome Database for mitochondria-related genes, proteins and diseases
Institut für Humangenetik der TU München
Institut für Humangenetik

GERMANY

Bayern
MÜNCHEN

Registry for patients with mitochondrial diseases (mitoREGISTER) - subproject of mitoNET
Institut für Humangenetik der TU München
Institut für Humangenetik

GERMANY

Bayern
MÜNCHEN

mitoSAMPLE: Biobank for mitochondrial diseases - subproject of mitoNET
Institut für Humangenetik der TU München
Institut für Humangenetik

HUNGARY

Dél-Dunántúl
PECS

Mitochondrial DNA disorders biobank
Clinical Center - University of Pécs
Department of Medical Genetics

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberMITOCON: National registry mitochondrial disease
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Unità di Malattie Neuromuscolari e Neurodegenerative - Laboratorio di Medicina Molecolare

ITALY

LOMBARDIA
MILANO

Cell Line and DNA Bank of Paeditric Movement Disorders
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare

ITALY

TOSCANA
PISA

Funded by an IRDiRC memberMITOCON: National registry mitochondrial disease
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Laboratorio di Neurobiologia Clinica e Neurochimica

SPAIN

Cataluña
BARCELONA

NMD-ES: Mitochondrial Diseases Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

NMD-ES: Mitochondrial Diseases Registry
Hospital Sant Joan de Déu Barcelona
Unidad de Enfermedades Metabólicas Congénitas

UNITED STATES

California
IRVINE

MITOMAP: A human mitochondrial genome database. A compendium of polymorphisms and mutations of the human mitochondrial DNA
University of California
Center for molecular and mitochondrial medicine & genetics

AUSTRIA

TIROL
INNSBRUCK

Austrian registry for inborn errors of metabolism
Medizinische Universität Innsbruck
Pädiatrie I

GERMANY

Baden-Württemberg
HEIDELBERG

Funded by an IRDiRC memberERN [MetabERN] - UIMD: Unified European Registry for Inherited Metabolic DisordersUIMD: Unified European Registry for Inherited Metabolic Disorders
Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin

GERMANY

Baden-Württemberg
REUTLINGEN

RAMEDIS : Rare Metabolic Diseases Database
Klinikum am Steinenberg
Klinik für Kinder- und Jugendmedizin

GERMANY

Baden-Württemberg
REUTLINGEN

RAMEDIS : Rare Metabolic Diseases mutation Database
Klinikum am Steinenberg
Klinik für Kinder- und Jugendmedizin

NETHERLANDS

Utrecht
UTRECHT

DDRMD - Dutch Diagnosis Registration Metabolic Diseases
UMC Utrecht - Universitair Medisch Centrum Utrecht
Afdeling Metabole Ziekten

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Biobank of the Sant Joan de Déu Children's Hospital for Research (BHISJDI)
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Biobanco del Hospital Infantil Sant Joan de Déu para la investigación

Networks of registries and biobanks

ITALY

LIGURIA
GENOVA

TELETHON NETWORK OF GENETIC BIOBANKS
  • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
  • Centro di diagnostica genetica e biochimica delle malattie metaboliche