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Registries and Biobanks

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Belgian patient database for Wilson disease - contributes to the EuroWilson registry (terminated)
Cliniques Universitaires UCL Saint-Luc
Service de gastro-entérologie et hépatologie pédiatrique

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

BULGARIA

 South Central region
PLOVDIV

National registry of patients with Wilson disease - BG
BAPES - Bulgarian Association for Promotion of Education and Science
Information Centre for Rare Diseases and Orphan Drugs

BULGARIA

 South Central region
PLOVDIV

National registry of patients with mucopolysaccharidosis type II (MPS2) - BG
BAPES - Bulgarian Association for Promotion of Education and Science
Information Centre for Rare Diseases and Orphan Drugs

BULGARIA

 South-West region
SOFIA

National registry of patients with phenylketonuria - BG
University hospital of Obstetrics and Gynecology
Laboratory of molecular pathology - National Genetics Laboratory

DENMARK

Sjćlland
COPENHAGEN

The PKU biobank as a national research source
Statens Serum Institut
Department of clinical biochemistry

FRANCE

HAUTS-DE-FRANCE
LOMME

French registry of tetrahydrobiopterin deficiencies
Hôpital Saint-Philibert
Laboratoire de biochimie

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)

FRANCE

ILE-DE-FRANCE
PARIS

European LeukoDataBase
CHU Paris - Hôpital Robert Debré
Centre de référence des leucodystrophies

FRANCE

ILE-DE-FRANCE
PARIS

UMD ATP7B (ATPase, Cu++ transporting, beta polypeptide) mutations database
Hôpital Necker-Enfants Malades
Biochimie métabolomique et protéomique

GERMANY

Baden-Württemberg
HEIDELBERG

iNTD (International Working Group on Neurotransmitter Related Disorders) Registry
Dietmar-Hopp-Stoffwechselzentrum
Klinik für Kinderheilkunde I - Stoffwechsellabor

GERMANY

Baden-Württemberg
HEIDELBERG

Funded by an IRDiRC memberEIMD: European registry and network for intoxication type metabolic diseases
Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin

GERMANY

Baden-Württemberg
TÜBINGEN

Niemann-Pick Type C Disease Gene Variation Database
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik

GERMANY

Baden-Württemberg
TÜBINGEN

GeNeMove: CP2 Central DNA-Bank
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik

GERMANY

Bayern
MÜNCHEN

MD-NET: Muscle Tissue Culture Collection (MTCC) (EuroBioBank partner)
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC memberTIRCON: NBIA (Neurodegeneration with Brain Iron Accumulation) patient registry
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

GERMANY

Bayern
MÜNCHEN

Biobank for patient with NBIA - subproject of TIRCON
Institut für Humangenetik der TU München
Institut für Humangenetik

GERMANY

Hamburg
HAMBURG

NCL-Registry: International neuronal ceroid lipofuscinoses patient registry
UKE - Universitätsklinikum Hamburg-Eppendorf
Arbeitsgruppe Degenerative Gehirnkrankheiten

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

GERMANY

Hamburg
HAMBURG

Hunter Outcome Survey (HOS): patient registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

GERMANY

Hessen
MARBURG

GeNeMove: German database for wilson disease
Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
Klinik und Poliklinik für Neurologie

GERMANY

Niedersachsen
GÖTTINGEN

ESNEK - Rare paediatric neurological disease registry Germany
Universitätsmedizin Göttingen
Geschäftsstelle der ESNEK

GERMANY

Nordrhein-Westfalen
AACHEN

Funded by an IRDiRC memberEUROFA - EFACT: European Friedreich Ataxia Registry
Universitätsklinikum Aachen
Klinik für Neurologie

GERMANY

Nordrhein-Westfalen
AACHEN

EUROFA - EFACT: European Friedreich Ataxia Biobank
Universitätsklinikum Aachen
Klinik für Neurologie

GERMANY

Nordrhein-Westfalen
MÜNSTER

Brain-Net - brain tissue bank Munster (pediatric neuropathology)
Institut für Neuropathologie der Medizinischen Fakultät Münster
Institut für Neuropathologie

GERMANY

Nordrhein-Westfalen
MÜNSTER

HUNGARY

Dél-Dunántúl
PECS

Friedreich ataxia biobank
Clinical Center - University of Pécs
Department of Medical Genetics

IRELAND

County Dublin
DUBLIN

Hunter Outcome Survey (HOS): patient registry
Children's University Hospital
National Centre for Inherited Metabolic Disorders

IRELAND

County Dublin
DUBLIN

Funded by an IRDiRC memberIrish Registry for homocystinurias and methylation defects - contributes to E-HOD
Children's University Hospital
National Centre for Inherited Metabolic Disorders

ITALY

LIGURIA
GENOVA

Galliera Genetic Bank
Ospedali Galliera
Dipartimento di Scienze genetiche, Perinatali e Ginecologiche

ITALY

LOMBARDIA
MILANO

Movement Disorders Biobank (EuroBioBank partner)
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare

ITALY

PIEMONTE
TORINO

ITALY

SICILIA
CATANIA

EUROWILSON: Registry and network to improve the management of Wilson Disease
Presidio Ospedaliero Garibaldi-Nesima
Servizio di Genetica Medica - Centro di Riferimento per la Prevenzione, la Diagnosi e la Cura delle Malattie Genetiche Rare

ITALY

TOSCANA
PISA

Italian Registry of Kernicterus and hyperbilirubinemia
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Fondazione Toscana Gabriele Monasterio

NETHERLANDS

Noord-Holland
AMSTERDAM

Dutch patient registry for Niemann-Pick Disease Type C
Amsterdam UMC, locatie AMC
Afdeling Endocrinologie en Metabolisme

NETHERLANDS

Noord-Holland
AMSTERDAM

The ALD Connect Patient Portal
Amsterdam UMC, locatie AMC
Laboratorium Genetische Metabole Ziekten

NETHERLANDS

Noord-Holland
AMSTERDAM

NETHERLANDS

Noord-Holland
NAARDEN

The international Mps I registry
Genzyme Europe B.V.

NETHERLANDS

Noord-Holland
NAARDEN

NORWAY

Nord-Norge
TROMSŘ

HUE-MAN patient registry on alpha mannosidosis
UNN - Universitetssykehuset Nord-Norge
Department of medical genetics

NORWAY

Nord-Norge
TROMSŘ

HUE-MAN mutation registry on alpha mannosidosis
UNN - Universitetssykehuset Nord-Norge
Department of medical genetics

NORWAY

Nord-Norge
TROMSŘ

HUE-MAN biobank on alpha mannosidosis
UNN - Universitetssykehuset Nord-Norge
Department of medical genetics

PORTUGAL

NORTE
PORTO

MitoBreak: The mitochondrial DNA breakpoints database.
CIIMAR - Interdisciplinary Centre of Marine and Environmental Research

SPAIN

Andalucía
SEVILLA

Registry for rare diseases in Andalusia (Spain)
Junta de Andalucía. Consejería de Salud y Bienestar Social
Dirección General de Calidad, Investigación y Gestión del Conocimiento

SPAIN

Aragón
ZARAGOZA

Rare disease registry of Aragon (Spain)
Gobierno de Aragón. Departamento de Sanidad, Bienestar Social y Familia
Servicio de Evaluación y Acreditación Sanitaria

SPAIN

Baleares
PALMA DE MALLORCA

Population registry of rare diseases of Balearic Islands (Spain)
Govern de les Illes Balears. Dirección General de Salud Pública y Consumo
Servicio de Epidemiología

SPAIN

Baleares
PALMA DE MALLORCA

Population registry of rare diseases of Balearic Islands (Spain)
Govern de les Illes Balears. Dirección General de Salud Pública y Consumo
Dirección General de Salud Pública y Consumo

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)
FISABIO - Salud Pública
Área de Enfermedades Raras

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 Análisis y Evaluación Asistencial

SPAIN

Madrid
MADRID

SIERMA: Information system on rare diseases in Madrid (Spain)
Comunidad de Madrid. Subdirección de Promoción y Prevención de la Salud
Subdirección de Promoción y Prevención de la Salud

SPAIN

Madrid
MADRID

ReeR: Spanish National Registry of Rare Diseases
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

Population registry of rare diseases of Navarra (Spain)
Instituto de Salud Pública y Laboral de Navarra
Sección de Epidemiología de Enfermedades No Transmisibles

SWITZERLAND

Suisse Alémanique
ZÜRICH

BH4: international mutation registry of tetrahydrobiopterin deficiency
Universitäts - Kinderspital Zürich - Eleonorenstiftung
University Children's Hospital

UNITED KINGDOM

Greater London
LONDON

Batten Disease Neuronal Ceroid Lipofuscinosis (NCL) Patient Registry
UCL University College London
MRC Laboratory for Molecular Cell Biology

UNITED KINGDOM

Greater Manchester
MANCHESTER

Registry for Patients with Niemann-Pick Type C Disease
St Mary's Hospital
Manchester Cente for Genomic Medicine

UNITED KINGDOM

South Yorkshire
SHEFFIELD

EURO WILSON: Creating a European Clinical Database and designing randomised controlled clinical trials for Wilson disease - UK
The Sheffield Children's Hospital
Sheffield Children's Hospital (Division of Child Health)

UNITED KINGDOM

Tyne & Wear
NEWCASTLE-UPON-TYNE

United Kingdom Primary Sjogren's Syndrome Registry
Faculty of Medical Sciences Newcastle University
Musculoskeletal Research Group Institute of Cellular Medicine

UNITED KINGDOM

West Midlands
BIRMINGHAM

Funded by an IRDiRC memberEIMD: European registry and network for intoxication type metabolic diseases
Birmingham Children's Hospital NHS Foundation Trust
Department of Clinical Inherited Metabolic Disorders

UNITED KINGDOM

West Midlands
BIRMINGHAM

Funded by an IRDiRC memberInternational Niemann-Pick Disease Registry
Queen Elizabeth Hospital
Inherited Metabolic Disorders

UNITED STATES

California
SAN FRANCISCO

Sjogren's International Collaborative Clinical Alliance registry
University of California
Department of Orofacial Sciences

UNITED STATES

Massachusetts
CAMBRIDGE

HOS : Hunter Outcome Survey
Shire Human Genetics Therapies, Inc.

UNITED STATES

Pennsylvania
EXTON

FARA: International Friedreich Ataxia Research Alliance registry
FARA - Friedreichs Ataxia Research Alliance

AUSTRIA

TIROL
INNSBRUCK

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

DENMARK

Sjćlland
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

BRETAGNE
RENNES

French registry of Iron overload genetic rare diseases, non-related to the HFE gene
CHU de Rennes - Hôpital Pontchaillou
Service des maladies du foie

GERMANY

Hessen
GIEßEN

Mutation Database Retina International: CLN3 Gene
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANY

Hessen
GIEßEN

Mutation Database Retina International: Palmitoyl-Protein Thioesterase Gene (PPT CLN1) Gene
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

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

ITALY

PIEMONTE
NOVARA

BIODEF-International Database of tetrahydrobiopterin Deficiencies
Universitŕ degli Studi del Piemonte Orientale
Laboratorio di Patologia Genetica

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

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

UNITED KINGDOM

Nottinghamshire
NOTTINGHAM

Ataxia-Telangiectasia Society
William Whitehouse
Pediatric Neurology Department

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Global FKRP registry (Global Fukutin-Related Protein defects registry) - Part of TREAT-NMD Alliance
Institute of Genetic Medicine - International Centre for Life
Global FKRP Registry

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Global FKRP registry (Global Fukutin-Related Protein defects registry) - Part of TREAT-NMD Alliance
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

International A-T Registry
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine

UNITED STATES

Georgia
ATLANTA

CMDIR: congenital muscular dystrophy international registry
Emory University
Woodruff Health Sciences Center

CANADA

Colombie-Britannique
VANCOUVER

Glomerulonephritis Registry
Centre for Health Evaluation and Outcome Sciences (CHEOS)
Department of Nephrology

UNITED KINGDOM

Oxfordshire
OXFORD

UK10K RARE CHD - Congenital heart disease variant database
The Wellcome Trust Centre for Human Genetics
Division of Cardiovascular Medicine

Networks of registries and biobanks

GERMANY

Baden-Württemberg
HEIDELBERG

iNTD Network - International Working Group on Neurotransmitter Related Disorders
  • Dietmar-Hopp-Stoffwechselzentrum
  • Klinik für Kinderheilkunde I - Stoffwechsellabor
  • GERMANY

    Bayern
    MÜNCHEN

    BNE: BrainNet Europe II: European brain tissue bank
  • Zentrum für Neuropathologie und Prionforschung (ZNP)
  • Zentrum für Neuropathologie und Prionforschung der LMU München
  • GERMANY

    Bayern
    MÜNCHEN

    Brain-Net Germany : National network of brain banks in Germany
  • Zentrum für Neuropathologie und Prionforschung (ZNP)
  • Zentrum für Neuropathologie und Prionforschung der LMU München
  • NETHERLANDS

    Noord-Holland
    AMSTERDAM

    Funded by an IRDiRC memberE-HOD - European network and registry for homocystinurias and methylation defects
  • Amsterdam UMC, locatie VUmc
  • Afdeling Interne Geneeskunde
  • SPAIN

    Madrid
    MADRID

    SpainRDR: Spanish Rare Disease Registries Research Network (patient registries)
  • ISCIII - Instituto de Salud Carlos III
  • Instituto de Investigación de Enfermedades Raras
  • UNITED KINGDOM

    South Yorkshire
    SHEFFIELD

    Funded by an IRDiRC memberEUROWILSON: European network on Wilson disease (registries)
  • The Sheffield Children's Hospital
  • Sheffield Children's Hospital (Division of Child Health)
  • ITALY

    LIGURIA
    GENOVA

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