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Funded by an IRDiRC member =

Registries and Biobanks

NETHERLANDS

Zuid-Holland
ROTTERDAM

ENCORE Biobank for Neurodevelopmental Disorders (blood/saliva/skin biopsies)
Erasmus MC - Erasmus Medisch Centrum
Afdeling Neurowetenschappen

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

HUNGARY

Dél-Dunántúl
PECS

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

ITALY

LIGURIA
GENOVA

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

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

UNITED KINGDOM

Tayside
EDINBURGH

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

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

CANADA

Ontario
BRAMPTON

Fragile X Patient Registry
FXRFC
Fragile X Research Foundation of Canada

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)

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

Tuberous sclerosis biobank
Clinical Center - University of Pécs
Department of Medical Genetics

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

Funded by an IRDiRC memberTelethon Network of Genetic Biobanks
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

ITALY

TOSCANA
FIRENZE

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

KOREA, REPUBLIC OF

KOREA, REPUBLIC OF
SEOUL

Funded by an IRDiRC memberKorean 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

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
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

Funded by an IRDiRC memberBasque Biobank
BIOEF - Fundación Vasca de Innovación e Investigación Sanitarias
Biobanco Vasco

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

East Sussex
BRIGHTON

TuberOus SClerosis registry to increase disease Awareness (TOSCA)
Royal Sussex County Hospital
Sussex Kidney Unit

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
  • GERMANY

    Bayern
    MÜNCHEN

    Brain-Net Germany : National network of brain banks in Germany
  • Zentrum für Neuropathologie und Prionforschung (ZNP)
  • Zentrum für Neuropathologie und Prionforschung der LMU München
  • 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

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