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Funded by an IRDiRC member = 
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Registries and Biobanks
GERMANY
Baden-Württemberg
TÜBINGEN
RetDis Database: blood or DNA samples of patients and families with inherited eye diseases
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor
GERMANY
Baden-Württemberg
TÜBINGEN
RetDis Database: clinical descriptions of patients and families with inherited eye diseases
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor
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
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
OCCITANIE
TOULOUSE
RaDiCo-AC-OEIL: National cohort on congenital defects of the eye : natural history, genetic determinisms and improved ocular and extra-ocular outcome prediction for better patient management
CHU de Toulouse - Hôpital Purpan
Service de génétique médicale
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
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
AUSTRIA
STEIERMARK
GRAZ
Styrian registry of congenital anomalies - contributes to the EUROCAT network
Medizinische Universität Graz
Forschungsverein zur Registrierung steirischer Geburtsfehlbildungen
BELGIUM
ANTWERPEN
ANTWERPEN
Antwerpen registry of congenital anomalies - contributes to the EUROCAT network
Provinciaal Instituut voor Hygiëne (PIH)- Antwerpen
EUROCAT Belgium_Antwerpen
BELGIUM
HAINAUT
GOSSELIES
Hainaut and Namur registry of congenital anomalies - contributes to the EUROCAT network
Institut de Pathologie et de Génétique
Département de Génétique Clinique - Institut de Pathologie et de Génétique (IPG)
DENMARK
Syddanmark
ODENSE
Funen county registry of congenital anomalies - contributes to the EUROCAT network
University of Southern Denmark
Epidemiology department
FINLAND
Finland
HELSINKI
Register of Congenital Malformations, Epämuodostumarekisteri
Terveyden ja hyvinvoinnin laitos (THL)
Finnish Institute for Health and Welfare (THL)
FRANCE
AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
Auvergne registry of congenital anomalies - contributes to the EUROCAT network
CHU de Clermont-Ferrand - Hôpital d'Estaing
Service de génétique médicale
FRANCE
AUVERGNE-RHONE-ALPES
LYON
Rhône-Alpes registry of congenital anomalies - contributes to the EUROCAT network
Registre des Malformations en Rhône Alpes
Registre des Malformations en Rhône Alpes REMERA
FRANCE
BRETAGNE
RENNES
Bretagne registry of congenital anomalies - contributes to the EUROCAT network
CHU de Rennes - Hôpital Pontchaillou
CHU Rennes
FRANCE
GRAND-EST
STRASBOURG
RaDiCo-RETICO: National cohort on inherited retinal dystrophies
CHU de Strasbourg - Hôpital de Hautepierre
Service de génétique médicale
FRANCE
ILE-DE-FRANCE
PARIS
Paris registry of congenital anomalies - contributes to the EUROCAT network
APHP - HUPC - Site Cochin
Equipe EPOPé
FRANCE
ILE-DE-FRANCE
PARIS
Cohort of patients with hereditary dystrophies of retina
Institut de la Vision
Centre d'Investigation Clinique (CIC) de l'hôpital des Quinze-Vingts
FRANCE
OUTRE-MER
FORT DE FRANCE
French West Indies registry of congenital anomalies - contributes to the EUROCAT network
CHU de Martinique - Maison de la Femme, de la Mère et de l'Enfant
Centre Pluridisciplinaire de Diagnostic Prénatal (CPDP)
FRANCE
OUTRE-MER
SAINT-PIERRE
La Réunion Fench Island registry of congenital anomalies - contributes to the EUROCAT network
CHU de la Réunion - GH Sud Réunion - Saint-Pierre
Service de Génétique Médicale
GERMANY
Nordrhein-Westfalen
BONN
Patient registry for retinal degeneration PRO RETINA e.V
Pro Retina Deutschland e.V.
GERMANY
Rheinland-Pfalz
MAINZ
Mainz registry of congenital anomalies - contributes to the EUROCAT network
Universitätsmedizin Mainz
Geburtenregister Mainzer Modell
GERMANY
Sachsen-Anhalt
MAGDEBURG
Centre Saxony-Anhalt registry of congenital anomalies - contributes to the EUROCAT network
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
IRELAND
County Cork
CORK
South of Ireland registry of congenital anomalies - contributes to the EUROCAT network
St. Finbarr's Hospital
Department of Public Health
IRELAND
County Dublin
DUBLIN
Dublin registry of congenital anomalies - contributes to the EUROCAT network
Health Services Executive
HSE Registry of Congenital Anomalies (East)
IRELAND
County Kilkenny
KILKENNY
South East of Ireland registry of congenital anomalies - part of BINOCAR and EUROCAT network
Health Service Executive South SE
South East of Ireland registry of congenital anomalies
ITALY
CAMPANIA
BENEVENTO
Campania registry of congenital anomalies - contributes to the EUROCAT network
A.O.R.N. "Gaetano Rummo"
U.O.C. di Genetica Medica
ITALY
SICILIA
CATANIA
ISMAC: Sicilian registry of congenital anomalies - contributes to the EUROCAT network
ASMAC
Associazione per la Prevenzione Sociale e per il Trattamento delle Malformazioni Congenite
ITALY
TOSCANA
PISA
Tuscan Registry of Congenital Anomalies
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Unità di Ricerca Epidemiologia Ambientale e Registri di Patologia
ITALY
VENETO
PADOVA
North-East of Italy registry of congenital anomalies - contributes to the EUROCAT network
Azienda Ospedaliera di Padova
U.O.C. Genetica Clinica ed Epidemiologica
MALTA
MALTA
G'MANGIA
MALTA CONGENITAL ANOMALIES REGISTRY (MCAR) - it contributes to EUROCAT
Ministry for Health
Directorate of Health Information and Research
NETHERLANDS
Groningen
GRONINGEN
EUROCAT Northern Netherlands - contributes to the international EUROCAT network
UMCG - Universitair Medisch Centrum Groningen
Afdeling Genetica
POLAND
Poznan
POZNAN
PRCM: Polish registry of congenital malformations - contributes to the EUROCAT network
Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu
Zaklad Genetyki Medycznej
PORTUGAL
SUL
LISBOA
RENAC - Registo Nacional de Anomalias Congénitas (contribui para a rede EUROCAT)
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Departamento de Epidemiologia
SPAIN
Madrid
MADRID
Spanish patient registry of hereditary retinal dystrophy
Hospital Universitario Fundación Jiménez Díaz
Servicio de Genética Clínica
SPAIN
País Vasco
VITORIA-GASTEIZ
RACAV: Registry of congenital anomalies of the Basque Country (Spain) - contributes to the EUROCAT network
Gobierno Vasco. Departamento de Salud
SWITZERLAND
Suisse Romande
LAUSANNE
EUROCAT VAUD Switzerland - Registry of congenital malformations of canton Vaud
Centre Hospitalier Universitaire Vaudois CHUV
Département Femme-Mère-Enfant - Maternité
UNITED KINGDOM
Hampshire
SOUTHAMPTON
WANDA - Wessex registry of antenatally detected anomalies - part of BINOCAR and EUROCAT network
Princess Anne Hospital
Paediatric Endocrinology and the Wessex Clinical 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
GERMANY
Mecklenburg-Vorpommern
ROSTOCK
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
Galliera Genetic Bank
Ospedali Galliera
Dipartimento di Scienze genetiche, Perinatali e Ginecologiche
NETHERLANDS
Gelderland
NIJMEGEN
RD5000 database: Dutch Registry for Inherited Retinal Dystrophies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica
NETHERLANDS
Noord-Holland
NAARDEN
Registry NXT - Genzyme's Rare Disease Registries
Genzyme Europe B.V.
NETHERLANDS
Zuid-Holland
LEIDEN
LUMC Biobank RVCL-S (DNA/peripheral blood cells/plasma/serum/tissue/CSF)
LUMC - Leids Universitair Medisch Centrum
Afdeling Neurologie
NETHERLANDS
Zuid-Holland
ROTTERDAM
RD5000 database: Dutch Registry for Inherited Retinal Dystrophies
Erasmus MC - Erasmus Medisch Centrum
Afdeling Oogheelkunde
SWEDEN
Region Skåne
LUND
LYSTbase: Mutation registry for Chediak-Higashi syndrome (previously known as CHS1base)
Lund University
Department of Experimental Medical Science
BELGIUM
OOST-VLAANDEREN
GENT
I-DSD: International Disorders of Sex Development registry - Flanders contribution (Ghent university hospital)
Ghent University Hospital - UZ Gent
Het Centrum voor geslachtsontwikkeling [DSD team] - UZ Gent
ESTONIA
Tartu
TARTU
Estonian Rare Diseases Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes - contribuiting to EURO-WABB
Children's Clinic - Tartu University Hospital
Department of Paediatrics and Neurology
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
GRAND-EST
STRASBOURG
RaDiCo-COBBALT: National cohort on Bardet-Bield syndrome and Alström syndrome
CHU de Strasbourg - Hôpital de Hautepierre
Service de génétique médicale
FRANCE
PROVENCE-ALPES-COTE D'AZUR
NICE
French Disease Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes - contributes to EURO-WABB
CHU de Nice - Hôpital l'Archet 2
Service de génétique
GERMANY
Hamburg
HAMBURG
Registry for Patients with WT1 Mutation Associated Diseases
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin
ITALY
VENETO
PADOVA
Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes - contributing to EURO-WABB
Azienda Ospedaliera di Padova
Laboratorio Endocrino Metabolico - Clinica Medica 3
POLAND
Lodz
LODZ
Registry for Wolfram syndrome, Astrom syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes contributing do EURO-WABB
Uniwersytecki Szpital Kliniczny nr 4 im. Marii Konopnickiej
Pracownia Immunopatologii I Genetyki - Laboratory of Immunopathology and Genetics
POLAND
Lodz
LODZ
Registry for Wolfram syndrome, Astrom syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes contributing do EURO-WABB
Uniwersytecki Szpital Kliniczny nr 4 im. Marii Konopnickiej
Departament of Pediatrics, Oncology, Hematology and Diabetology
PORTUGAL
NORTE
PORTO
MitoBreak: The mitochondrial DNA breakpoints database.
CIIMAR - Interdisciplinary Centre of Marine and Environmental Research
SPAIN
Cataluña
BARCELONA
The Connexin-deafness mutations database
Centro de Regulación Genómica
Programa Genes y Enfermedad
SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
REWBA: Spanish Registry of Wolfram, Bardet-Biedl and Alstrom syndromes
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Grupo de Genética molecular humana
SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
EURO-WABB: An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom Syndrome, Bardet-Biedl Syndrome and Other Rare Diabetes Syndromes - ES
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Grupo de Genética molecular humana
SPAIN
Galicia
VIGO
REWBA: Spanish Registry of Wolfram, Bardet-Biedl and Alstrom syndromes
Universidade de Vigo
Departamento de Bioquímica, Genética e Inmunología
SWEDEN
Region Skåne
LUND
AP3B1base: Mutation registry for Hermansky-Pudlak syndrome 2
Lund University
Department of Experimental Medical Science
SWEDEN
Region Skåne
LUND
MLPHbase: Mutation registry for Griscelli syndrome, type 3 (GS3)
Lund University
Department of Experimental Medical Science
SWEDEN
Region Skåne
LUND
MYO5Abase: Mutation registry for Griscelli syndrome, type 1 (GS1)
Lund University
Department of Experimental Medical Science
SWEDEN
Region Skåne
LUND
RAB27Abase: Mutation registry for Griscelli syndrome, type 2 (GS2)
Lund University
Department of Experimental Medical Science
SWITZERLAND
Suisse Alémanique
BERN
Swiss Paediatric Renal Registry
Institute of Social and Preventive Medicine (ISPM)
UNITED KINGDOM
Cambridgeshire
CAMBRIDGE
The Alström Syndrome UK (ASUK) Tissue Bank
Addenbrooke's Hospital
University of Cambridge Metabolic Research Laboratories
UNITED KINGDOM
West Midlands
BIRMINGHAM
EURO-WABB: An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom Syndrome, Bardet-Biedl Syndrome and Other Rare Diabetes Syndromes - UK
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit
FRANCE
ILE-DE-FRANCE
PARIS
French cohort creation in retinitis pigmentosa
Hôpital Necker-Enfants Malades
Service d'Ophtalmologie enfants et adultes
FRANCE
OCCITANIE
MONTPELLIER
French cohort of Usher syndrome
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire
FRANCE
OCCITANIE
MONTPELLIER
USHbases (Usher syndrome) mutations database
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire
FRANCE
PAYS DE LA LOIRE
ANGERS
eOPA1: mutations registry of OPA1 gene (Optic atrophy 1)
CHU d'Angers
UF de Génétique Moléculaire
FRANCE
PAYS DE LA LOIRE
NANTES
French registry of patients affect by Leber amaurosis and retinitis pigmentosa to assess the clinical trial in gene therapy
CHU de Nantes
Délégation Régionale à la Recherche Clinique
FRANCE
PAYS DE LA LOIRE
NANTES
French registry of patients affect by Leber amaurosis and retinitis pigmentosa to assess the clinical trial in gene therapy
CHU de Nantes - Hôtel Dieu
Service d'ophtalmologie
GERMANY
Baden-Württemberg
TÜBINGEN
Blue cone monochromatism - Patient registry
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor
ITALY
LAZIO
ROMA
Blue cone monochromatism patient registry (BCM Registry)
Fondazione Famiglie Monocromatismo dei Coni blu - Sede italiana
Fondazione Famiglie Monocromatismo dei Coni blu - Sede italiana di "BCM Families Foundation"
ITALY
TOSCANA
FIRENZE
Biogene- Biobank of biological material from patients affected by genetic diseases
Azienda Ospedaliero Universitaria Careggi
S.O.D. Diagnostica Genetica
SWEDEN
Region Örebro län
ÖREBRO
Svenska registret för Ushers syndrom
Örebro University Hospital
Department of Audiology/ Audiological Clinical Research Centre
Networks of registries and biobanks
UNITED KINGDOM
Antrim and Newtownabbey
NEWTOWNABBEY
EUROCAT: European surveillance of congenital anomalies
University of Ulster
Room 12 L09
UNITED KINGDOM
West Midlands
BIRMINGHAM