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Funded by an IRDiRC member =

Registries and Biobanks

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
TÜBINGEN

ERN [RND] - ERN-RND Registry: The ERN-RND Rare Neurological Disease Registry
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik

GERMANY

Schleswig-Holstein
LÜBECK

Funded by an IRDiRC memberDYSTRACT: German Dystonia Registry
Universität Lübeck
Institut für Neurogenetik

PORTUGAL

SUL
LISBOA

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

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Belgian patient database for Wilson disease - contributes to the EuroWilson registry (terminated)
Cliniques Universitaires UCL Saint-Luc
Service de gastro-entérologie et hépatologie pédiatrique

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

BULGARIA

 South Central region
PLOVDIV

National registry of patients with Wilson disease - BG
BAPES - Bulgarian Association for Promotion of Education and Science
Information Centre for Rare Diseases and Orphan Drugs

CANADA

Ontario
BRAMPTON

Fragile X Patient Registry
FXRFC
Fragile X Research Foundation of Canada

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

UMD ATP7B (ATPase, Cu++ transporting, beta polypeptide) mutations database
Hôpital Necker-Enfants Malades
Biochimie Métabolomique et Protéomique

FRANCE

ILE-DE-FRANCE
PARIS

SYRENE: Rett syndrome network - French database of clinical and genetic aspects of Rett syndrome
Hôpital Necker-Enfants Malades
Service de Neurologie pédiatrique

GERMANY

Hessen
MARBURG

GeNeMove: German database for wilson disease
Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
Klinik und Poliklinik für Neurologie

GERMANY

Niedersachsen
GÖTTINGEN

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

GERMANY

Nordrhein-Westfalen
MÜNSTER

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

HUNGARY

Dél-Dunántúl
PECS

Rett syndrome biobank
Clinical Center - University of Pécs
Department of Medical Genetics

IRELAND

County Dublin
DUBLIN

Irish Dystonia DNA Biobank
St. Vincent's University Hospital
Department of Neurology

ITALY

LIGURIA
GENOVA

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

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Genetic Biobank from patients with Williams-Beuren syndrome and other genomic disorders
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
U.O.C. Genetica Medica

ITALY

SICILIA
CATANIA

EUROWILSON: Registry and network to improve the management of Wilson Disease
Presidio Ospedaliero Garibaldi-Nesima
Servizio di Genetica Medica - Centro di Riferimento per la Prevenzione, la Diagnosi e la Cura delle Malattie Genetiche Rare

ITALY

TOSCANA
FIRENZE

Biogene- Biobank of biological material from patients affected by genetic diseases
Azienda Ospedaliero Universitaria Careggi
S.O.D. Diagnostica Genetica

ITALY

TOSCANA
SIENA

Cells lines and DNA bank of Rett syndrome and other X-linked mental retardation
Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
U.O.C. di Genetica Medica

ITALY

TOSCANA
SIENA

Rett Syndrome Database
Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
U.O.C. di Genetica Medica

PORTUGAL

NORTE
PORTO

Registo Português do Síndrome de Rett
Hospital de Santo António - Centro Hospitalar do Porto
Serviço de Pediatria Médica

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

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

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

SWITZERLAND

Suisse Alémanique
BASEL

SACHER: Swiss Adult Congenital HEart disease Registry
Universitätsspital Basel
Cardiology Department

SWITZERLAND

Suisse Alémanique
BERN

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

SWITZERLAND

Suisse Alémanique
ZÜRICH

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

UNITED KINGDOM

South Yorkshire
SHEFFIELD

EURO WILSON: Creating a European Clinical Database and designing randomised controlled clinical trials for Wilson disease - UK
The Sheffield Children's Hospital
Sheffield Children's Hospital (Division of Child Health)

UNITED KINGDOM

Tayside
EDINBURGH

Rett Syndrome Mutation Database: MeCP2 gene
MRC Centre for Regenerative Medicine
Institute for Stem Cell Research

FRANCE

OCCITANIE
MONTPELLIER

French cohort of focal dystonia famillies
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

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

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

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)

GERMANY

Baden-Württemberg
HEIDELBERG

iNTD (International Working Group on Neurotransmitter Related Disorders) Registry
Dietmar-Hopp-Stoffwechselzentrum
Klinik für Kinderheilkunde I - Stoffwechsellabor

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

ITALY

PIEMONTE
NOVARA

BIODEF-International Database of tetrahydrobiopterin Deficiencies
Università degli Studi del Piemonte Orientale
Laboratorio di Patologia Genetica

Networks of registries and biobanks

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

EURORETT: European network on Rett syndrome (registry)
  • Faculté de Médecine de la Timone
  • Centre d'enseignement et de recherche en génétique médicale - INSERM UMR S910
  • GERMANY

    Bayern
    MÜNCHEN

    BNE: BrainNet Europe II: European brain tissue bank
  • Zentrum für Neuropathologie und Prionforschung (ZNP)
  • Zentrum für Neuropathologie und Prionforschung der LMU München
  • SPAIN

    Madrid
    MADRID

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

    South Yorkshire
    SHEFFIELD

    Funded by an IRDiRC memberEUROWILSON: European network on Wilson disease (registries)
  • The Sheffield Children's Hospital
  • Sheffield Children's Hospital (Division of Child Health)
  • GERMANY

    Baden-Württemberg
    HEIDELBERG

    iNTD Network - International Working Group on Neurotransmitter Related Disorders
  • Dietmar-Hopp-Stoffwechselzentrum
  • Klinik für Kinderheilkunde I - Stoffwechsellabor