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Registries and Biobanks
AUSTRIA
STEIERMARK
GRAZ
Skin cancer syndrome registry Graz
Medizinische Universität Graz
Universitätsklinik für Dermatologie und Venerologie
DENMARK
Hovedstaden
COPENHAGEN
Nordic Database for Rare Diseases
Rigshospitalet
Department of Clinical Genetics and Paediatrics
FRANCE
GRAND-EST
STRASBOURG
UMD CSB (ERCC6) mutations database
CHU de Strasbourg - Hôpital de Hautepierre
Service de Neuropédiatrie
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 système 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-Salpêtrière
Centre de Recherche en Myologie
FRANCE
PAYS DE LA LOIRE
ANGERS
PXE Biobank (Plasma, serum, DNA, skin fibroblasts)
CHU d'Angers
Service de dermatologie et vénéréologie
GERMANY
Bayern
MÜNCHEN
German PAM/MFM registry: Patient registry for hereditary protein aggregate myopathies (PAM) / myofibrillar myopathies (MFM)
Friedrich-Baur-Institut
PAM/MFM-Patientenregister
GERMANY
Hessen
FRANKFURT AM MAIN
Ataxia-Telangiectasia patient registry - contributes to the ESID Database
Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
Schwerpunkt Allergologie, Pneumologie und Mukoviszidose
GERMANY
Hessen
GIEßEN
Mutation Database Retina International: Multidrug Resistance-associated Protein 6 (ABCC6/ MPR6/ MOAT-E)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde
GERMANY
Hessen
MARBURG
German national case collection of familial pancreatic cancer
Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
Klinik für Visceral- Thorax- und Gefäßchirurgie
ITALY
EMILIA ROMAGNA
BOLOGNA
Registry of Ehlers-Danlos syndrome - RED
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche
ITALY
EMILIA ROMAGNA
MODENA
Italian registry of patients and families affected by Pseudoxanthoma Elasticum
Università degli Studi di Modena e Reggio Emilia
LabGen - Laboratorio Sequenziamento Genomico
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
LIGURIA
GENOVA
Galliera Genetic Bank
Ospedali Galliera
Dipartimento di Scienze genetiche, Perinatali e Ginecologiche
NETHERLANDS
Groningen
GRONINGEN
International Dystrophic Epidermolysis Bullosa Patient Registry
UMCG - Universitair Medisch Centrum Groningen
Afdeling Genetica
NETHERLANDS
Groningen
GRONINGEN
COL7A1 Mutation Registry - part of the International Dystrophic Epidermolysis Bullosa Patient Registry
UMCG - Universitair Medisch Centrum Groningen
Afdeling Genetica
NETHERLANDS
Zuid-Holland
ROTTERDAM
ENCORE Biobank for Neurodevelopmental Disorders (blood/saliva/skin biopsies)
Erasmus MC - Erasmus Medisch Centrum
Afdeling Neurowetenschappen
SPAIN
Cataluña
BELLATERRA
DNA repair biobank
Universitat Autònoma de Barcelona
Grupo de inestabilidad genómica y reparación del DNA
SPAIN
Madrid
MADRID
Spanish Academy of Dermatology and Venereology (AEDV) / Rare Diseases Registry ISCIII: Registry of xeroderma pigmentoso
Academia Española de Dermatología y Venereología
Unidad de investigación de la Fundación Academia Española de Dermatología y Venereología
SWEDEN
Region Skåne
LUND
MRE11Abase: Mutation registry for Ataxia-telangiectasia-like disorder (ATLD)
Lund University
Department of Experimental Medical Science
SWITZERLAND
Suisse Romande
LAUSANNE
Swiss registries for Interstitial and Orphan Lung Diseases (SIOLD Registries)
Centre Hospitalier Universitaire Vaudois CHUV
Swiss registries for Interstitial and Orphan Lung Diseases
UNITED KINGDOM
Lothian
EDINBURGH
Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database: ACVRL1 and ENG
Western General Hospital
Molecular Genetics Laboratory (part of the South East Scotland Genetics Service)
UNITED KINGDOM
Nottinghamshire
NOTTINGHAM
Ataxia-Telangiectasia International Registry (A-T 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 STATES
Utah
SALT LAKE CITY
International Pachyonychia Congenita Research Registry (IPCRR)
PC Project
Pachyonychia Congenita Project
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
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
GRAND-EST
STRASBOURG
UMD CSA (ERCC8) mutations database
CHU de Strasbourg - Hôpital de Hautepierre
Service de Neuropédiatrie
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
RaDiCo-SED-VASC: National cohort on vascular Ehlers-Danlos syndrome
CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
Service de génétique - CR des Maladies Vasculaires Rares
GERMANY
Hessen
GIEßEN
Mutation Database Retina International: P-Cadherin Gene (CDH3)
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
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
Telethon 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
Korean 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
NORWAY
Østlandet
OSLO
Norwegian registry on rare disorders
Oslo University Hospital, Ullevaal
Norsk register for sjeldne diagnoser
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
Cataluña
BARCELONA
The Connexin-deafness mutations database
Centro de Regulación Genómica
Programa Genes y Enfermedad
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 - Facultad de Medicina de la Universidad de Valencia
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 Extremeño 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
Basque Biobank
BIOEF - Fundación Vasca de Innovación e Investigación Sanitarias
Biobanco Vasco
SWEDEN
Region Skåne
LUND
CTSCbase: Mutation registry for Papillon-Lefevre syndrome
Lund University
Department of Experimental Medical Science
SWEDEN
Region Skåne
LUND
DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome and dyskeratosis congenita
Lund University
Department of Experimental Medical Science
UNITED KINGDOM
Oxfordshire
OXFORD
UK10K RARE CHD - Congenital heart disease variant database
The Wellcome Trust Centre for Human Genetics
Division of Cardiovascular Medicine
SWEDEN
Region Skåne
LUND
IKBKGbase: Mutation registry for Nemo deficiency
Lund University
Department of Experimental Medical Science
SWEDEN
Region Skåne
LUND
NFKBIAbase: Mutation registry for Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency
Lund University
Department of Experimental Medical Science
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