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Registries and Biobanks

GERMANY

Hamburg
HAMBURG

Funded by an IRDiRC memberMucopolysaccharidosis type 1 (MPS I) Registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

NETHERLANDS

Noord-Holland
AMSTERDAM

Funded by an IRDiRC memberInternational MPS I registry
Genzyme Europe B.V.

SWEDEN

Region Stockholm
SOLNA

RMMS: Registry of Inherited Metabolic Diseases
Karolinska Universitetssjukhuset
CMMS - Centre for Inherited Metabolic Diseases

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberRaDiCo-MPS: National cohort on Mucopolysaccharidosis in the era of specific therapeutics
AP-HP.Sorbonne Université - Hôpital d'Enfants Armand-Trousseau
Service de Neuropédiatrie - Unité de neuropédiatrie et pathologie du développement

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

CRRD: Central Registry of Rare Diseases
Sciensano
Health Services Research - Rare Diseases

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

LAZIO
ROMA

RNMR: Italian National Rare Diseases Registry
ISS - Istituto Superiore di Sanitŕ
Centro Nazionale Malattie Rare

ITALY

TOSCANA
PISA

Tuscan Registry of Rare Diseases
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Fondazione Toscana Gabriele Monasterio

ITALY

TOSCANA
SIENA

Siena Genetic Biobank
Azienda Ospedaliero Universitaria Senese - Policlinico Santa Maria alle Scotte
U.O.C. di Genetica Medica

ITALY

VENETO
PADOVA

Rare Diseases Registry - Veneto Region
Azienda Ospedaliera di Padova
Coordinamento Malattie Rare Regione del Veneto

NETHERLANDS

Noord-Holland
AMSTERDAM

SPAIN

Andalucía
SEVILLA

Registry for rare diseases in Andalusia (Spain)
Junta de Andalucía. Consejería de Salud y Bienestar Social
Subdirección Técnica Asesora de Gestión de la Información

SPAIN

Aragón
ZARAGOZA

Funded by an IRDiRC memberRare disease registry of Aragon (Spain)
Gobierno de Aragón. Departamento de Sanidad
Servicio de Evaluación y Acreditación Sanitaria

SPAIN

Cantabria
SANTANDER

Population registry of rare diseases and congenital anomalies of Cantabria (Spain)
Gobierno de Cantabria. Consejería de Sanidad y Servicios Sociales
Servicio de Atención Sanitaria

SPAIN

Comunidad Valenciana
VALENCIA

SIER-CV: Information System on rare diseases in Valencian Community (Spain)
Generalitat Valenciana. Conselleria de Sanitat
Servicio de Estudios Epidemiológicos y Vigilancia de Enfermedades No Transmisibles

SPAIN

Extremadura
MÉRIDA

Registry for rare diseases in Extremadura (Spain)
Junta de Extremadura. Servicio Extremeńo de Salud
Subdirector de Epidemiología

SPAIN

Galicia
SANTIAGO DE COMPOSTELA

RERGA: Registry for rare diseases in Galicia (Spain)
Servicio Gallego de Salud
Servicio de Atención Hospitalaria

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberRePER: Rare Diseases Patient Registry
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras

SPAIN

Murcia
MURCIA

SIERrm: Information System on rare diseases in the Region of Murcia (Spain)
Región de Murcia. Consejería de Sanidad y Política Social
Servicio de Planificación y Financiación Sanitaria

SPAIN

Navarra
PAMPLONA

RERNA: Population-based Rare Disease Registry of Navarre (Spain)
Instituto de Salud Pública y Laboral de Navarra
Observatorio de la Salud Comunitaria

SPAIN

País Vasco
BARAKALDO

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

SPAIN

País Vasco
VITORIA-GASTEIZ

Rare Diseases Registry of the Basque Country
Gobierno Vasco. Departamento de Salud
Registro de Enfermedades Raras de la Comunidad Autónoma de Euskadi

SWITZERLAND

Suisse Alémanique
BERN

Swiss Rare Disease Registry (SRSK)
Institute of Social and Preventive Medicine (ISPM)

SWITZERLAND

Suisse Alémanique
ZÜRICH

Swiss Rare Disease Registry (SRSK)
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten

UNITED STATES

South Dakota
SIOUX FALLS

AUSTRIA

TIROL
INNSBRUCK

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

AUSTRIA

TIROL
INNSBRUCK

Austrian Country Node of the Human Variome Project (HVP)
Medizinische Universität Innsbruck
Institut für Humangenetik

BELGIUM

ANTWERPEN
ANTWERPEN

Collection of FRA12A carrier DNA samples
University of Antwerp - UA, Campus Drie Eiken
Medical Genetics Unit

ESTONIA

Tartu
TARTU

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

FRANCE

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Funded by an IRDiRC memberRaDiCo-GenIDA: International social network for data collection on the natural history of rare monogenic forms of intellectual disabilities
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

GERMANY

Baden-Württemberg
REUTLINGEN

Funded by an IRDiRC memberRAMEDIS : Rare Metabolic Diseases Database
Kreiskliniken Reutlingen
Klinik für Kinder- und Jugendmedizin

GERMANY

Baden-Württemberg
REUTLINGEN

RAMEDIS : Rare Metabolic Diseases mutation Database
Kreiskliniken Reutlingen
Klinik für Kinder- und Jugendmedizin

ITALY

EMILIA ROMAGNA
BOLOGNA

Funded by an IRDiRC memberTNGB: Telethon Network of Genetic Biobanks
Istituto Ortopedico Rizzoli - Ospedale
Struttura Complessa Malattie Rare Scheletriche

ITALY

LIGURIA
GENOVA

Biobank of cell lines and DNA from patients affected by genetic diseases
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
U.O.C. Laboratorio di Genetica Umana

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'Hygične
Département de génétique médicale

NETHERLANDS

Limburg
MAASTRICHT

NETHERLANDS

Limburg
MAASTRICHT

Biobank Intellectual Disability and Multiple Congenital Anomalies (DNA)
Maastricht UMC+
Biobank Klinische Genetica Maastricht

NETHERLANDS

Utrecht
UTRECHT

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

NORWAY

Řstlandet
OSLO

Norwegian registry on rare disorders
Oslo University Hospital, Ullevaal
Norsk register for sjeldne diagnoser

SPAIN

Cataluńa
ESPLUGUES DE LLOBREGAT

Pediatric Biobank for Research
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Biobanco Pediátrico para la Investigación

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 - Facultad de Medicina de la Universidad de Valencia
Grupo de investigación en fisiopatología celular y orgánica del estrés oxidativo

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberERN [TRANSPLANT-CHILD] - PETER: PaEdiatric Transplantation European Registry
Hospital Universitario La Paz
Servicio de Hepatología infantil

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

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

UK10K RARE FIND - Familial Intellectual Disability variant database
Addenbrooke's Hospital
Familial Gastric Cancer - Addenbrookes

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

UK10K RARE FIND - Familial Intellectual Disability variant database
Wellcome Trust/MRC Building
Cambridge Institute for Medical Research

NETHERLANDS

Zuid-Holland
ROTTERDAM

Funded by an IRDiRC memberERN [CRANIO] - ERN CRANIO registry
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie

AUSTRIA

STEIERMARK
GRAZ

Styrian registry of congenital anomalies - contributes to the EUROCAT network
Medizinische Universität Graz
Forschungsverein zur Registrierung steirischer Geburtsfehlbildungen

ITALY

EMILIA ROMAGNA
BOLOGNA

Italian registry of skeletal dysplasia
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberNational Registry of Congenital Malformations (RNMC)
ISS - Istituto Superiore di Sanitŕ
Centro Nazionale Malattie Rare

NETHERLANDS

Gelderland
NIJMEGEN

AGORA: biobank (DNA) for congenital anomalies and childhood cancer
Radboudumc - Radboud universitair medisch centrum
Afdeling Kinderurologie

NETHERLANDS

Gelderland
NIJMEGEN

AGORA: biobank (DNA) for congenital anomalies and childhood cancer
Radboudumc - Radboud universitair medisch centrum
Afdeling Health Evidence

NETHERLANDS

Zuid-Holland
LEIDEN

Funded by an IRDiRC memberERN [BOND] - EuRR-Bone: European Registry for Rare Bone and Mineral Conditions
LUMC - Leids Universitair Medisch Centrum
Coordination center EuRR-Bone Registry

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberECEMC: Registry of the Spanish Collaborative Study of Congenital Malformations
ISCIII - Instituto de Salud Carlos III
Unidad de Investigación sobre Anomalías Congénitas

Networks of registries and biobanks

MALTA

MALTA
MALTA

EuroBioBank: European Network of DNA, Cell and Tissue banks for rare diseases
  • Universita ta Malta
  • Molecular Genetics Laboratory
  • GERMANY

    Baden-Württemberg
    HEIDELBERG

    Funded by an IRDiRC memberERN [MetabERN] - U-IMD: Unified European Registry for Inherited Metabolic Disorders
  • Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg
  • Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin