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Funded by an IRDiRC member =

Registries and Biobanks

GERMANY

Baden-Württemberg
FREIBURG

National registry for Blackfan-Diamond disease
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie

ITALY

PIEMONTE
TORINO

LOVD-DBA: RPL11 gene (ribosomal protein L11) variant database
A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
Laboratorio Universitario di Biologia Molecolare

ITALY

PIEMONTE
TORINO

LOVD-DBA: RPL35A gene (ribosomal protein L35a) variant database
A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
Laboratorio Universitario di Biologia Molecolare

ITALY

PIEMONTE
TORINO

LOVD-DBA: RPL5 gene (ribosomal protein L5) variant database
A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
Laboratorio Universitario di Biologia Molecolare

ITALY

PIEMONTE
TORINO

LOVD-DBA: RPS17 gene (ribosomal protein S17) variant database
A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
Laboratorio Universitario di Biologia Molecolare

ITALY

PIEMONTE
TORINO

LOVD-DBA: RPS19 gene (ribosomal protein S19) variant database
A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
Laboratorio Universitario di Biologia Molecolare

ITALY

PIEMONTE
TORINO

LOVD-DBA: RPS24 gene (ribosomal protein S24) variant database
A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
Laboratorio Universitario di Biologia Molecolare

ITALY

PIEMONTE
TORINO

LOVD-DBA: RPS7 gene (ribosomal protein S7) variant database
A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
Laboratorio Universitario di Biologia Molecolare

ITALY

PIEMONTE
TORINO

LOVD-DBA: RPS10 gene (ribosomal protein S10) variant database
A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
Laboratorio Universitario di Biologia Molecolare

ITALY

PIEMONTE
TORINO

LOVD-DBA: RPS26 gene (ribosomal protein S26) variant database
A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
Laboratorio Universitario di Biologia Molecolare

GERMANY

Niedersachsen
HANNOVER

Central national database for incidence and outcome of congenital bone marrow failure syndromes, biobank and database of the BMFS-Network
Medizinische Hochschule Hannover
Koordinationsstelle des Netzwerkes für angeborene Störungen der Blutbildung

IRELAND

County Dublin
DUBLIN

National Cleft Database - contributes to EUROCAT
St James's Hospital
Clefting Service

UNITED KINGDOM

Greater London
LONDON

CRANE: patients registry with cleft lip and/or cleft palate in England and Wales
Royal College of Surgeons of England
Clinical Effectiveness Unit

PORTUGAL

CENTRO
COIMBRA

Central regional cancer patient registry
Instituto Português de Oncologia de Coimbra de Francisco Gentil, EPE
Registo Oncológico Regional - Zona Centro

PORTUGAL

ILHAS
AÇORES

Açores regional cancer patient registry (RORA)
Centro de Oncologia dos Açores Prof Doutor José Conde
Registo Oncológico Regional dos Açores

PORTUGAL

NORTE
PORTO

North regional cancer registry (RORENO)
Instituto Português de Oncologia do Porto, EPE / IPOFG - CRO Porto
Registo Oncológico Regional do Norte

PORTUGAL

NORTE
VILA NOVA DE GAIA

Vila Nova de Gaia regional cancer registry (ROG)
Centro Hospitalar de Vila Nova de Gaia
Registo de Cancro (ROG)

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

FRANCE

ILE-DE-FRANCE
PARIS

French constitutive hematologic diseases registry
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
Service d'hématologie pédiatrique

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

SWITZERLAND

Suisse Romande
GENÈVE

Swiss Cleft Lip and Palate Registry
Hôpital des Enfants - Hôpitaux Universitaires de Genève
Swiss Cleft Lip and Palate Registry

FINLAND

Finland
HELSINKI

Networks of registries and biobanks

GERMANY

Niedersachsen
HANNOVER

BMFS: Network for Congenital Bone Marrow Failure Syndromes (patient registry)
  • Medizinische Hochschule Hannover
  • Koordinationsstelle des Netzwerkes für angeborene Störungen der Blutbildung
  • ITALY

    LIGURIA
    GENOVA

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