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Registries and Biobanks

AUSTRIA

TIROL
INNSBRUCK

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

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

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

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)

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

Baden-Württemberg
ULM

Enroll-HD Register
Universitäts- und Rehabilitationskliniken Ulm (RKU)
Zentrale Koordination des Europäischen HD Netzwerks

GERMANY

Baden-Württemberg
ULM

Enroll-HD Biobank
Universitäts- und Rehabilitationskliniken Ulm (RKU)
Zentrale Koordination des Europäischen HD Netzwerks

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

Bayern
MÜNCHEN

EHDN: neuroacanthocytosis patient registry
LMU Klinikum der Universität München - Campus Großhadern
Arbeitsgruppe Kognitive Neurologie - Neurologische Klinik und Poliklinik

GERMANY

Hamburg
HAMBURG

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

GREECE

ATTIKI
ATHENS

PATIENT REGISTRY AND DNA BIOBANK ON NEUROGENETIC DISORDERS
University of Athens - Medical school
Neurogenetics Unit

HUNGARY

Dél-Dunántúl
PECS

Huntington disease biobank
Clinical Center - University of Pécs
Department of Medical Genetics

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

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

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

Noord-Holland
AMSTERDAM

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

PORTUGAL

SUL
LISBOA

Biobanco-IMM
Faculdade de Medicina da Universidade de Lisboa
Biobanco-IMM

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

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

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

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

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

SPAIN

País Vasco
BARAKALDO

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

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

Gwent
CARDIFF

UNITED KINGDOM

Gwent
CARDIFF

UNITED KINGDOM

South Yorkshire
SHEFFIELD

EHND: registry of juvenile Huntington's disease
The Sheffield Children's Hospital
Sheffield Clinical Genetics Department (part of the Sheffield Clinical Genetics Service)

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

FRANCE

ILE-DE-FRANCE
PARIS

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

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

NETHERLANDS

Zuid-Holland
ROTTERDAM

Biobank Frontotemporal Dementia Erasmus MC (DNA/RNA/plasma/serum/tissue)
Erasmus MC - Erasmus Medisch Centrum
Alzheimercentrum Erasmus MC

CANADA

Colombie-Britannique
VANCOUVER

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

GERMANY

Baden-Württemberg
TÜBINGEN

EUROSCA-R: European patient registry on spinocerebellar ataxias
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik

GERMANY

Baden-Württemberg
TÜBINGEN

EUROSCA-R: European biobank on spinocerebellar ataxias
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik

GERMANY

Nordrhein-Westfalen
BONN

EUROSCA-R: European patient registry on spinocerebellar ataxias
Universitätsklinikum Bonn (AöR)
Klinik und Poliklinik für Neurologie

GERMANY

Nordrhein-Westfalen
BONN

EUROSCA-R: European biobank on spinocerebellar ataxias
Universitätsklinikum Bonn (AöR)
Klinik und Poliklinik für Neurologie

FRANCE

ILE-DE-FRANCE
PARIS

CoF-AT study: a French cohort on ataxia-telangiectasia
CLCC Institut Curie
Cancer et génome: bioinformatique, biostatistiques et épidémiologie d'un systčme complexe

FRANCE

ILE-DE-FRANCE
PARIS

CoF-AT study: a French cohort on ataxia-telangiectasia
CLCC Institut Curie
Service de Génétique

FRANCE

ILE-DE-FRANCE
PARIS

Registre de mutations d'UMD LMNA (Lamin A/C)
Institut de Myologie - Hôpital Pitié-Salpętričre
Centre de Recherche en Myologie

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

Hessen
FRANKFURT AM MAIN

Ataxia-Telangiectasia patient registry - contributes to the ESID Database
Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
Pädiatrische Allergologie, Pneumologie und Mukoviszidose

GERMANY

Hessen
MARBURG

German national case collection of familial pancreatic cancer
Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
Klinik für Visceral- Thorax- und Gefäßchirurgie

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

HUNGARY

Dél-Dunántúl
PECS

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

HUNGARY

Dél-Dunántúl
PECS

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

HUNGARY

Dél-Dunántúl
PECS

Epilepsy biobank
Clinical Center - University of Pécs
Department of Medical Genetics

ITALY

LAZIO
ROMA

RIAT: Ataxia teleangiectasia Italian registry
A.O. S. Andrea
Servizio di Genetica Medica

ITALY

LAZIO
ROMA

V-RIAT: variant Ataxia telangiectasia Italian registry
A.O. S. Andrea
Servizio di Genetica Medica

ITALY

PIEMONTE
TORINO

SPAIN

Cataluńa
BELLATERRA

DNA repair biobank
Universitat Autňnoma de Barcelona
Grupo de inestabilidad genómica y reparación del DNA

SWEDEN

Skane
LUND

MRE11Abase: Mutation registry for Ataxia-telangiectasia-like disorder (ATLD)
Lund University
Department of Experimental Medical Science

UNITED KINGDOM

Nottinghamshire
NOTTINGHAM

Ataxia-Telangiectasia Society
William Whitehouse
Pediatric Neurology Department

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 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 STATES

California
SAN FRANCISCO

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

UNITED STATES

Pennsylvania
EXTON

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

GERMANY

Hessen
GIEßEN

'Mutation Database Retina International: Centrosomal Protein; 290 kDa (CEP290)'
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANY

Nordrhein-Westfalen
MÜNSTER

Nephronophthisis registry for patients in germany, austria and switzerland
KfH Kuratorium für Dialyse und Nierentransplantation e.V.
KfH-Nierenzentrum für Kinder und Jugendliche

GERMANY

Nordrhein-Westfalen
MÜNSTER

Nephronophthisis registry for patients in germany, austria and switzerland
Universitätsklinikum Münster
Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie

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
  • SPAIN

    Madrid
    MADRID

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