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Registri and biobanche

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

Finland
HELSINKI
The Finnish Register of Visual Impairment, Näkövammarekisteri
Finnish Federation of the Visually Impaired
Näkövammaisten liitto ry

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)

LAZIO
ROMA
RNMR: Registro Nazionale Malattie Rare
ISS - Istituto Superiore di Sanitŕ
Centro Nazionale Malattie Rare

TOSCANA
PISA
Registro Toscano Malattie Rare
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Fondazione Toscana Gabriele Monasterio

VENETO
PADOVA
Registro Malattie Rare della Regione Veneto
Azienda Ospedaliera di Padova
Coordinamento Malattie Rare Regione del Veneto

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

Aragón
ZARAGOZA
Rare disease registry of Aragon (Spain)
Gobierno de Aragón. Departamento de Sanidad
Servicio de Evaluación y Acreditación Sanitaria

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

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

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

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

Madrid
MADRID
RePER: Rare Diseases Patient Registry
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras

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

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

País Vasco
BARAKALDO
Basque Biobank
BIOEF - Fundación Vasca de Innovación e Investigación Sanitarias
Biobanco Vasco

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

South Dakota
SIOUX FALLS
CORDS Registry: Coordination of Rare Diseases at Sanford Registry
Sanford Research
Standford Research

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

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

GRAND-EST
VANDOEUVRE-LČS-NANCY
RNTSE - National registry of children solid tumors
Faculté de médecine de Nancy
Registre national des tumeurs solides de l'enfant

Nordrhein-Westfalen
ESSEN
Retinoblastoma Genetics Website
Universitätsklinikum Essen
Institut für Humangenetik

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

TOSCANA
SIENA
Registro Italiano del retinoblastoma
Universitŕ degli Studi di Siena
Dipartimento di Pediatria, Ostetricia e Medicina della Riproduzione

Baden-Württemberg
TÜBINGEN
Blue cone monochromatism - Patient registry
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor

LAZIO
ROMA
Registro dei pazienti affetti da monocromatismo dei coni blu
Fondazione Famiglie Monocromatismo dei Coni blu - Sede italiana
Fondazione Famiglie Monocromatismo dei Coni blu - Sede italiana di "BCM Families Foundation"

Gelderland
NIJMEGEN
RD5000 database: Dutch Registry for Inherited Retinal Dystrophies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica

Zuid-Holland
ROTTERDAM
RD5000 database: Dutch Registry for Inherited Retinal Dystrophies
Erasmus MC - Erasmus Medisch Centrum
Afdeling Oogheelkunde

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

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

ANTWERPEN
ANTWERPEN
Antwerp registry of congenital anomalies - contributes to the EUROCAT network
Provinciaal Instituut voor Hygiëne (PIH)- Antwerpen
EUROCAT Belgium_Antwerpen

HAINAUT
GOSSELIES
Hainaut and Namur registry of congenital anomalies - contribution to the EUROCAT network
Institut de Pathologie et de Génétique
Département de Génétique Clinique - Institut de Pathologie et de Génétique (IPG)

Finland
HELSINKI
Register of Congenital Malformations
Terveyden ja hyvinvoinnin laitos (THL)
Finnish Institute for Health and Welfare (THL)

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
CEMC-Auvergne - Center for the Study of Congenital Malformations in Auvergne - contributes to the EUROCAT network
CHU de Clermont-Ferrand - Hôpital d'Estaing
Service de génétique médicale

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

BRETAGNE
RENNES
Brittany registry of congenital anomalies - contributes to the EUROCAT network
CHU de Rennes - Hôpital Pontchaillou
CHU Rennes

BRETAGNE
RENNES
ReMaBreizh: Registry of congenital malformations in Brittany
CHU de Rennes - Hôpital Pontchaillou
CHU Rennes

ILE-DE-FRANCE
PARIS
REMAPAR- Paris registry of congenital anomalies - contributes to the EUROCAT network
APHP - HUPC - Site Cochin
Equipe EPOPé

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 Mčre et de l'Enfant
Centre Pluridisciplinaire de Diagnostic Prénatal (CPDPN)

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

Nordrhein-Westfalen
BONN
Patient registry for retinal degeneration PRO RETINA e.V
Pro Retina Deutschland e.V.

Nordrhein-Westfalen
DÜSSELDORF
German Ocular Pemphigoid Registry
Universitätsklinikum Düsseldorf
Klinik für Augenheilkunde

Rheinland-Pfalz
MAINZ
Mainz registry of congenital anomalies - contributes to the EUROCAT network
Universitätsmedizin Mainz
Geburtenregister Mainzer Modell

Sachsen-Anhalt
MAGDEBURG
Centre Saxony-Anhalt registry of congenital anomalies - contributes to the EUROCAT network
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

County Cork
CORK
South of Ireland registry of congenital anomalies - contributes to the EUROCAT network
St. Finbarr's Hospital
Department of Public Health

County Dublin
DUBLIN
Dublin registry of congenital anomalies - contributes to the EUROCAT network
Health Services Executive
HSE Registry of Congenital Anomalies (East)

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

CAMPANIA
BENEVENTO
Registro Campano difetti congenit i- afferisce al network EUROCAT
A.O.R.N. "San Pio" - P.O. "G. Rummo"
U.O.S.D. di Genetica Medica

SICILIA
CATANIA
ISMAC: Registro siciliano di anomalie congenite - afferisce al network EUROCAT
ASMAC
Associazione per la Prevenzione Sociale e per il Trattamento delle Malformazioni Congenite

TOSCANA
PISA
Registro Toscano Difetti Congeniti
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Unitŕ di Ricerca Epidemiologia Ambientale e Registri di Patologia

Groningen
GRONINGEN
EUROCAT Northern Netherlands - contributes to the international EUROCAT network
UMCG - Universitair Medisch Centrum Groningen
Afdeling Genetica

Poznan
POZNAN
PRCM: Polish registry of congenital malformations - contributes to the EUROCAT network
Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu
Zaklad Genetyki Medycznej

SUL
LISBOA
RENAC - Portuguese registry of congenital anomalies (contributes to the EUROCAT network)
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Departamento de Epidemiologia

Hertfordshire
HARPENDEN
International A-T Registry - UK
AT Society
A-T Patient Registry

Madrid
MADRID
Spanish patient registry of hereditary retinal dystrophy
Hospital Universitario Fundación Jiménez Díaz
Servicio de Genética Clínica

País Vasco
VITORIA-GASTEIZ
RACAV: Registry of congenital anomalies of the Basque Country (Spain) - contributes to the EUROCAT network
Gobierno Vasco. Departamento de Salud
Registro de anomalías congénitas del País Vasco

Suisse Romande
LAUSANNE
EUROCAT VAUD Switzerland - Registry of congenital malformations of canton Vaud
Centre Hospitalier Universitaire Vaudois CHUV
Département Femme-Mčre-Enfant - Maternité

GRAND-EST
REIMS
Biobank in chorioretinopathy, birdshot type
CHU de Reims - Hôpital Robert Debré
Laboratoire d'immunologie

GRAND-EST
STRASBOURG
RaDiCo-RETICO: National cohort on inherited retinal dystrophies
CHU de Strasbourg - Hôpital de Hautepierre
Service de génétique médicale

Mecklenburg-Vorpommern
GREIFSWALD
German ROP (retinopathy of prematurity) Registry - contributes to the EU-ROP registry
Universitätsmedizin Greifswald
Klinik und Poliklinik für Augenheilkunde

Mecklenburg-Vorpommern
ROSTOCK

Nordrhein-Westfalen
KÖLN
German ROP (retinopathy of prematurity) Registry - contributes to the EU-ROP registry
Universitätsklinikum Köln
Zentrum für Augenheilkunde

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

Nordrhein-Westfalen
MÜNSTER
NEOCYST patient registry for childhood cystic kidney disease
KfH Kuratorium für Dialyse und Nierentransplantation e.V.
KfH-Nierenzentrum für Kinder und Jugendliche

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

Zuid-Holland
LEIDEN
LUMC Biobank RVCL-S (DNA/peripheral blood cells/plasma/serum/tissue/CSF)
LUMC - Leids Universitair Medisch Centrum
Afdeling Neurologie

California
BERKELEY
National Birdshot Chorioretinopathy.
University Of California Berkeley
Ophthalmology

Region Blekinge
LUND
PECARE: Swedish Registry of cataract in children
Registercentrum Syd
Regional Registry Centre, South Sweden

Region Uppsala
UPPSALA
SWEDROP: Swedish Registry for Retinopathy of Prematurity
Akademiska Sjukhuset
Uppsala University Hospital

OOST-VLAANDEREN
GENT
I-DSD: International Disorders of Sex Development registry - BE - Flanders contribution (Ghent university hospital)
Ghent University Hospital - UZ Gent
Het Centrum voor geslachtsontwikkeling [DSD team] - UZ Gent

AUVERGNE-RHONE-ALPES
BRON
EDMUS - NOMADMUS: French biobank of Devic's neuromyelitis optica and related neurological disorders
CHU de Lyon HCL - GH Est
Centre de Ressources Biologiques - NeuroBioTec

GRAND-EST
STRASBOURG
RaDiCo-COBBALT: National cohort on Bardet-Bield syndrome and Alström syndrome
CHU de Strasbourg - Hôpital de Hautepierre
Service de génétique médicale

OCCITANIE
MONTPELLIER
Registry of hereditary Haemochromatosis of the Languedoc Roussillon (including rare forms non-HFE hemochromatosis)
CHU de Montpellier - Hôpital Saint-Eloi
Département d'Hématologie biologique

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

Nordrhein-Westfalen
DÜSSELDORF
Neuromyelitis optica patient registry
Universitätsklinikum Düsseldorf
Neuromyelitis optica Studiengruppe (NEMOS)

VENETO
PADOVA
Registro per le sindromi di Wolfram, Alström , Bardet-Biedl e altre sindromi rare - afferisce al network EURO-WABB
Azienda Ospedaliera di Padova
Laboratorio Endocrino Metabolico - Clinica Medica 3

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

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

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

Cataluńa
BARCELONA
The Connexin-deafness mutations database
Centro de Regulación Genómica
Programa Genes y Enfermedad

Galicia
VIGO
EURO-WABB: An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom Syndrome, Bardet-Biedl Syndrome and Other Rare Diabetes Syndromes -ES
Universidade de Vigo
Departamento de Bioquímica, Genética e Inmunología

Region Stockholm
SOLNA
Swedish Leber hereditary optic neuropathy registry
Karolinska Universitetssjukhuset
CMMS - Centre for Inherited Metabolic Diseases

Suisse Alémanique
BERN
Swiss Paediatric Renal Registry
Institute of Social and Preventive Medicine (ISPM)

ILE-DE-FRANCE
PARIS
French cohort creation in retinitis pigmentosa
Hôpital Necker-Enfants Malades
Service d'Ophtalmologie enfants et adultes

OCCITANIE
MONTPELLIER
French cohort of Usher syndrome
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

OCCITANIE
MONTPELLIER
USHbases (Usher syndrome) mutations database
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

PAYS DE LA LOIRE
ANGERS
eOPA1: mutations registry of OPA1 gene (Optic atrophy 1)
CHU d'Angers
Plateau de Biologie et Médecine Moléculaire

Nordrhein-Westfalen
DÜSSELDORF
National Registry for Mycotic keratitis
Universitätsklinikum Düsseldorf
Klinik für Augenheilkunde

Saarland
HOMBURG
German Acanthamoeba keratitis registry
Universitätsklinikum des Saarlandes
Klinik für Augenheilkunde

Thüringen
JENA
National Registry for Mycotic keratitis
Hans-Knöll-Institut (HKI)
Nationale Referenzzentrum für Invasive Pilzinfektionen

TOSCANA
FIRENZE
Biogene- Biobanca di materiale biologico da pazienti affetti da malattie rare genetiche
Azienda Ospedaliero Universitaria Careggi
S.O.D. Diagnostica Genetica

Region Örebro län
ÖREBRO
SVUSH: Swedish registry on Usher syndrome
Örebro Universitetssjukhus
Örebro University Hospital
Network di registri and biobanche

GRAND-EST
STRASBOURG
ERN [EYE] - REDgistry: An interoperable sustainable European Rare Eye Disease Registry
CHU de Strasbourg - Hôpital Civil
Centre des Affections Rares en Génétique Ophtalmologique - CARGO

LOMBARDIA
VARESE
EUROCAT: European surveillance of congenital anomalies
European Commission's Joint Research Centre in Ispra
European Commission's Joint Research Centre

Mecklenburg-Vorpommern
GREIFSWALD
EU-ROP: European Disease Registry on Retinopathy of Prematurity (ROP)
Universitätsmedizin Greifswald
Klinik und Poliklinik für Augenheilkunde

Mecklenburg-Vorpommern
GREIFSWALD
EU-ROP- European Retinopathy of prematurity (ROP) registry
Universitätsmedizin Greifswald
Klinik und Poliklinik für Augenheilkunde

West Midlands
BIRMINGHAM