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Finanziato da un ente associato a IRDiRC = Membro di una ERN =

Registri and biobanche

PORTOGALLO

NORTE
PORTO

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

BELGIO

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Central Registry of Rare Diseases (CRRD)
Sciensano
Health Services Research - Rare Diseases

FRANCIA

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)

GERMANIA

Niedersachsen
GÖTTINGEN

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

GERMANIA

Nordrhein-Westfalen
MÜNSTER

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

SPAGNA

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

SPAGNA

Aragón
ZARAGOZA

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

SPAGNA

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

SPAGNA

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

SPAGNA

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

SPAGNA

Comunidad Valenciana
VALENCIA

SIER-CV: Information System on rare diseases in Valencian Community (Spain)
FISABIO - Salud Pública
Área de Enfermedades Raras

SPAGNA

Extremadura
MÉRIDA

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

SPAGNA

Galicia
SANTIAGO DE COMPOSTELA

RERGA: Registry for rare diseases in Galicia (Spain)
Servicio Gallego de Salud
Servicio de Análisis y Evaluación Asistencial

SPAGNA

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

SPAGNA

Madrid
MADRID

ReeR: Spanish National Registry of Rare Diseases
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras

SPAGNA

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

SPAGNA

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

SVIZZERA

Suisse Alémanique
BERN

Swiss Rare Disease Registry
Institute of Social and Preventive Medicine (ISPM)

SVIZZERA

Suisse Alémanique
ZÜRICH

Swiss Rare Disease Registry
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten

AUSTRIA

TIROL
INNSBRUCK

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

COREA DEL SUD

KOREA, REPUBLIC OF
SEOUL

Finanziato da un ente associato a IRDiRCKorean Mutation Database for Rare Diseases
Seoul National University Hospital
Molecular Diagnostics Laboratory

DANIMARCA

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

ITALIA

LIGURIA
GENOVA

Biobanca di linee cellulari e di DNA da pazienti affetti da malattie genetiche
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

ITALIA

LIGURIA
GENOVA

Finanziato da un ente associato a IRDiRCRete delle biobanche genetiche Telethon
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

MAROCCO

Rabat
RABAT

Moroccan National Genetic Database
Institut National d'Hygične
Département de génétique médicale

NORVEGIA

Řstlandet
OSLO

Norwegian registry on rare disorders
Oslo University Hospital, Ullevaal
Norsk register for sjeldne diagnoser

SPAGNA

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

SPAGNA

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

SPAGNA

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

SPAGNA

País Vasco
BARAKALDO

Finanziato da un ente associato a IRDiRCBasque 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

BELGIO

ANTWERPEN
ANTWERPEN

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

BELGIO

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)

DANIMARCA

Syddanmark
ODENSE

Funen county registry of congenital anomalies - contributes to the EUROCAT network
University of Southern Denmark
Epidemiology department

FINLANDIA

Finland
HELSINKI

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

FRANCIA

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

FRANCIA

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

FRANCIA

BRETAGNE
RENNES

FRANCIA

ILE-DE-FRANCE
PARIS

FRANCIA

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 (CPDP)

FRANCIA

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

GERMANIA

Bayern
MÜNCHEN

mitoREGISTRY: Registry for patients with mitochondrial diseases - subproject of mitoNET
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

GERMANIA

Bayern
MÜNCHEN

MitoP2: Mitochondrial Proteome Database for mitochondria-related genes, proteins and diseases
Institut für Humangenetik der TU München
Institut für Humangenetik

GERMANIA

Bayern
MÜNCHEN

mitoSAMPLE: Biobank for mitochondrial diseases - subproject of mitoNET
Institut für Humangenetik der TU München
Institut für Humangenetik

GERMANIA

Rheinland-Pfalz
MAINZ

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

GERMANIA

Sachsen-Anhalt
MAGDEBURG

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

IRLANDA

County Cork
CORK

IRLANDA

County Dublin
DUBLIN

Dublin registry of congenital anomalies - contributes to the EUROCAT network
Dr. Steeven's Hospital
HSE Registry of Congenital Anomalies (East)

IRLANDA

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

ITALIA

CAMPANIA
BENEVENTO

Registro Campano difetti congeniti- afferisce al network EUROCAT
A.O.R.N. "Gaetano Rummo"
U.O.C. di Genetica Medica

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCMITOCON: Registro nazionale dei malati mitocondriali
IRCCS Ospedale Pediatrico Bambino Gesů - SEDE SAN PAOLO
Unitŕ di Malattie Neuromuscolari e Neurodegenerative - Laboratorio di Medicina Molecolare

ITALIA

LOMBARDIA
MILANO

Biobanca di DNA e linee cellulari dei disturbi del movimento in etŕ pediatrica
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare

ITALIA

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

ITALIA

TOSCANA
PISA

Finanziato da un ente associato a IRDiRCMITOCON: Registro nazionale dei malati mitocondriali
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Laboratorio di Neurobiologia Clinica e Neurochimica

ITALIA

TOSCANA
PISA

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

ITALIA

VENETO
PADOVA

Registro delle anomalie congenite in tutta l'area del nord-est Italia - afferisce al network EUROCAT
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

PAESI BASSI

Groningen
GRONINGEN

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

POLONIA

Poznan
POZNAN

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

PORTOGALLO

SUL
LISBOA

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

REGNO UNITO; GRAN BRETAGNA

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

REGNO UNITO; GRAN BRETAGNA

Lothian
EDINBURGH

UK10K_RARE_COLOBOMA - Ocular coloboma variant database
Western General Hospital
Department of Clinical Genetics

STATI UNITI

California
IRVINE

MITOMAP: A human mitochondrial genome database. A compendium of polymorphisms and mutations of the human mitochondrial DNA
University of California
Center for molecular and mitochondrial medicine & genetics

SVIZZERA

Suisse Romande
LAUSANNE

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

UNGHERIA

Dél-Dunántúl
PECS

Mitochondrial DNA disorders biobank
Clinical Center - University of Pécs
Department of Medical Genetics

BELGIO

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Belgian Neuromuscular Diseases Registry (BNMDR)
Sciensano
Health Services Research - Rare Diseases

ITALIA

CALABRIA
CATANZARO

REGNO UNITO; GRAN BRETAGNA

Greater London
LONDON

UK10K RARE NEUROMUSCULAR - Genetic neuromuscular diseases variant database
GOSH NHS Foundatin Trust
Dubowitz Neuromuscular Centre

SPAGNA

Madrid
MADRID

ECEMC: Registry of the Spanish Collaborative Study of Congenital Malformations
ISCIII - Instituto de Salud Carlos III
Unidad de Investigación sobre Anomalías Congénitas

UNGHERIA

Közép-Magyarország
BUDAPEST

DNA biobank of the Department of Molecular Genetics and Diagnostics, National Institute of Environmental Health (NIEH) (EuroBioBank partner)
National Institute of Environmental Health
Department of Molecular Genetics and Diagnostics

AUSTRIA

TIROL
INNSBRUCK

Austrian registry for inborn errors of metabolism
Medizinische Universität Innsbruck
Pädiatrie I

CANADA

Alberta
CALGARY

Canadian Neuromuscular Disease Registry
University of Calgary Health Science Centre
Department of Clinical Neurosciences

CIPRO

Cyprus
NICOSIA

FINLANDIA

Finland
HELSINKI

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

FRANCIA

GRAND-EST
STRASBOURG

Finanziato da un ente associato a IRDiRCERN [EYE] - REDgistry: An interoperable sustainable European Rare Eye Disease Registry
CHU de Strasbourg - Hôpital Civil
Centre des Affections Rares en Génétique Ophtalmologique - CARGO

FRANCIA

ILE-DE-FRANCE
GARCHES

French registry of neuromuscular diseases from reference centres
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Unité : Consultation Maladies Neuro Musculaires

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCERN [EURO-NMD] - EURO-NMD Registry: Patient centered and interoperable registry hub for Rare Neuromuscular Diseases
Institut de Myologie - Hôpital Pitié-Salpętričre
Unité clinique de pathologie neuromusculaire

GERMANIA

Baden-Württemberg
HEIDELBERG

Finanziato da un ente associato a IRDiRCERN [MetabERN] - UIMD: Unified European Registry for Inherited Metabolic DisordersUIMD: Unified European Registry for Inherited Metabolic Disorders
Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin

GERMANIA

Baden-Württemberg
REUTLINGEN

RAMEDIS : Rare Metabolic Diseases Database
Kreiskliniken Reutlingen
Klinik für Kinder- und Jugendmedizin

GERMANIA

Baden-Württemberg
REUTLINGEN

RAMEDIS : Rare Metabolic Diseases mutation Database
Kreiskliniken Reutlingen
Klinik für Kinder- und Jugendmedizin

GERMANIA

Baden-Württemberg
TÜBINGEN

RetDis Database: blood or DNA samples of patients and families with inherited eye diseases
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor

GERMANIA

Baden-Württemberg
TÜBINGEN

RetDis Database: clinical descriptions of patients and families with inherited eye diseases
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor

GERMANIA

Nordrhein-Westfalen
AACHEN

Brain-net - brain tissue bank Aachen
Universitätsklinikum Aachen
Institut für Neuropathologie

ITALIA

VENETO
PADOVA

Finanziato da un ente associato a IRDiRCRegistro Regionale per la prevenzione e l'epidemiologia delle malattie neuromuscolari
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
Neuromuscular Laboratory

ITALIA

VENETO
PADOVA

Banca di tessuti e DNA neuromuscolare (NMTB) (EuroBioBank partner)
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
Neuromuscular Laboratory

PAESI BASSI

Gelderland
NIJMEGEN

Dutch Neuromuscular Database CRAMP: Computer Registry of All Myopathies and Polyneuropathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Neurologie

PAESI BASSI

Utrecht
UTRECHT

DDRMD - Dutch Diagnosis Registration Metabolic Diseases
UMC Utrecht - Universitair Medisch Centrum Utrecht
Polikliniek Metabole Ziekten

SLOVENIA

SLOVENIA
LJUBLJANA

Human tissue biobank of Neuromuscular diseases (EuroBioBank partner)
University Medical Center Ljubljana
Institute of Anatomy

SPAGNA

Cataluńa
BARCELONA

NMD-ES: Spanish Registry of Neuromuscular Diseases
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología

SPAGNA

Cataluńa
ESPLUGUES DE LLOBREGAT

Biobank of the Sant Joan de Déu Children's Hospital for Research (BHISJDI)
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Biobanco del Hospital Infantil Sant Joan de Déu para la investigación

Network di registri and biobanche

GERMANIA

Bayern
MÜNCHEN

BNE: BRAINNET EUROPE II (Network of European Brain and Tissue Banks for Clinical and Basic Neuroscience)
  • Zentrum für Neuropathologie und Prionforschung (ZNP)
  • Zentrum für Neuropathologie und Prionforschung der LMU München
  • REGNO UNITO; GRAN BRETAGNA

    Antrim and Newtownabbey
    NEWTOWNABBEY

    REGNO UNITO; GRAN BRETAGNA

    Tyne & Wear
    NEWCASTLE UPON TYNE

    Finanziato da un ente associato a IRDiRCTREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (registries)
  • Newcastle upon Tyne Hospitals NHS Trust
  • John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine