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Registries and Biobanks

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)

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

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

NETHERLANDS

Gelderland
NIJMEGEN

Biobank Hereditary Colorectal Cancer (DNA/plasma/serum/tissue)
Radboudumc - Radboud universitair medisch centrum
Radboud Biobank

PORTUGAL

SUL
LISBOA

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

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

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

AUSTRIA

OBERÖSTERREICH
WELS

Austrian GIST registry
Akademie für Gesundheit und Bildung der Kreuzschwestern GesmbH

AUSTRIA

STEIERMARK
GRAZ

Skin cancer syndrome registry Graz
Medizinische Universität Graz
Universitätsklinik für Dermatologie und Venerologie

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
SCHAERBEEK (BRUXELLES)

Belgian familial adenomatous polyposis registry
FAPA
Familial Adenomatous Polyposis Association A.S.B.L./V.Z.W.

DENMARK

Hovedstaden
COPENHAGEN

Nordic Database for Rare Diseases
Rigshospitalet
Department of Clinical Genetics and Paediatrics

FRANCE

CENTRE-VAL DE LOIRE
TOURS

NF-France: genotype/phenotype database on neurofibromatosis 1
CHRU de Tours - Hôpital Clocheville
Pôle Enfants - Neuropédiatrie et handicaps

FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

National registry of children solid tumors
Faculté de médecine de Nancy
Registre national des tumeurs solides de l'enfant

FRANCE

ILE-DE-FRANCE
CRÉTEIL

NF-France: genotype/phenotype database on neurofibromatosis 1
CHU Henri Mondor
Service de dermatologie

FRANCE

ILE-DE-FRANCE
PARIS

French register of the SDH-related hereditary paraglioma
CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
Service de génétique

FRANCE

ILE-DE-FRANCE
PARIS

UMD APC (adenomatous polyposis coli) mutations database
CLCC Institut Curie
Laboratoire de Génotoxicologie des Tumeurs

FRANCE

ILE-DE-FRANCE
PARIS

National database for the study and follow-up of paediatric rare tumors
CLCC Institut Curie
Département d'Oncologie pédiatrique, adolescents et jeunes adultes

FRANCE

ILE-DE-FRANCE
PARIS

French registry of familial and premature prostate cancers (before 50 years)
Groupe hospitalier AP-HP.6 - Hôpital Tenon
Centre expert Oncologie urologique et prostatique

FRANCE

ILE-DE-FRANCE
SAINT-CLOUD

UMD BRCA1 (Breast cancer 1, early onset) mutations database
CLCC Hôpital René Huguenin - Institut Curie
Laboratoire d'oncogénétique

FRANCE

PAYS DE LA LOIRE
ANGERS

National database for the study and follow-up of paediatric rare tumors
CHU d'Angers
Centre de ressources et de compétences sur la mucoviscidose CRCM

GERMANY

Baden-Württemberg
FREIBURG

International pheochromocytoma and paraganglioma registry -terminated-
Universitätsklinikum Freiburg
Klinik für Innere Medizin IV - Nephrologie und Allgemeinmedizin

GERMANY

Baden-Württemberg
TÜBINGEN

CMMR: Central Malignant Melanoma Registry in germany
Zentrum für Dermatoonkologie am Universitätsklinikum Tübingen
Sektion Dermatologische Onkologie

GERMANY

Berlin
BERLIN

German gastrointestinal stromal tumor registry
HELIOS Klinikum Berlin-Buch
Onkologisches Zentrum Berlin-Buch

GERMANY

Hamburg
HAMBURG

Registry for Patients with WT1 Mutation Associated Diseases
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

GERMANY

Hessen
MARBURG

German national case collection of familial pancreatic cancer
Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
Klinik für Visceral- Thorax- und Gefäßchirurgie

GERMANY

Schleswig-Holstein
LÜBECK

Registry for congenital melanocytic nevi and neurocutaneous melanocytosis
Dermatologische Gemeinschaftspraxis
Nävus-Netzwerk Dr. med. S. Krengel

HUNGARY

Dél-Dunántúl
PECS

Neurofibromatosis type 1 biobank
Clinical Center - University of Pécs
Department of Medical Genetics

HUNGARY

Közép-Magyarország
BUDAPEST

Nemzeti NF Regiszter
Nemzeti NF Regiszter
NF Magyarorszag

ITALY

EMILIA ROMAGNA
BOLOGNA

REM: Multiple Osteochondromas Registry
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche

ITALY

EMILIA ROMAGNA
BOLOGNA

Biorepsitory of tissue and blood samples, lymphocytes and DNA from patients affected by solitary/multiple osteochondroma and peripheral chondrosarcoma
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche

ITALY

EMILIA ROMAGNA
BOLOGNA

BIOGEN: Diagnostic and research genetic Biobank
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche

ITALY

LIGURIA
GENOVA

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

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Collection of micro-RNA from normal and tumoral tissues of patients with colon rectal cancer
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
Laboratorio di Ricerca U.O.C. di Gastroenterologia

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Collection of micro-RNA from normal and tumoral tissues of patients with colon rectal cancer
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
Laboratorio di Ricerca Divisione di Gastroenterologia

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

VENETO
PADOVA

North-east Italy registry of neurofibromatosis
Azienda Ospedaliera di Padova
U.O.C. Genetica Clinica ed Epidemiologica

NETHERLANDS

Gelderland
NIJMEGEN

Radboud Biobank - Collection Pheochromocytoma/Paraganglioma (frozen and paraffin embedded tissue)
Radboudumc - Radboud universitair medisch centrum
Afdeling Endocriene Ziekten

NETHERLANDS

Gelderland
NIJMEGEN

AGORA: biobank (DNA) for congenital anomalies and childhood cancer
Radboudumc - Radboud universitair medisch centrum
Afdeling Kinderurologie

NETHERLANDS

Gelderland
NIJMEGEN

AGORA: biobank (DNA) for congenital anomalies and childhood cancer
Radboudumc - Radboud universitair medisch centrum
Afdeling Health Evidence

NETHERLANDS

Zuid-Holland
ROTTERDAM

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

PORTUGAL

CENTRO
COIMBRA

Central regional cancer patient registry
Instituto Português de Oncologia de Coimbra de Francisco Gentil, EPE
Registo Oncológico Regional - Zona Centro

PORTUGAL

ILHAS
AÇORES

Açores regional cancer patient registry (RORA)
Centro de Oncologia dos Açores Prof Doutor José Conde
Registo Oncológico Regional dos Açores

PORTUGAL

NORTE
PORTO

North regional cancer registry (RORENO)
Instituto Português de Oncologia do Porto, EPE / IPOFG - CRO Porto
Registo Oncológico Regional do Norte

PORTUGAL

NORTE
VILA NOVA DE GAIA

Vila Nova de Gaia regional cancer registry (ROG)
Centro Hospitalar de Vila Nova de Gaia
Registo de Cancro (ROG)

SPAIN

Asturias
OVIEDO

Registro MEN: Spanish registry of multiple endocrine neoplasia, pheochromocitomas and paragangliomas
Hospital Universitario Central de Asturias
Servicio de Endocrinología y Nutrición

SPAIN

Castilla - León
SALAMANCA

National DNA Bank: Rare diseases sample collection
Centro de Investigación del Cáncer (USAL-CSIC)
Banco Nacional de ADN

SPAIN

Cataluña
BELLATERRA

DNA repair biobank
Universitat Autònoma de Barcelona
Grupo de inestabilidad genómica y reparación del DNA

SWITZERLAND

Suisse Alémanique
BERN

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

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Familial Ovarian Cancer Register (FOCR)
Strangeways Research Laboratory
Department of Oncology

UNITED KINGDOM

Greater London
LONDON

Family History of Bowel Cancer Registry
Department of Gastroenterology
West Middlesex University Hospital

UNITED KINGDOM

Greater London
LONDON

Great Ormond Street Hospital Congenital Melanocytic Naevus Registry
GOSH NHS Foundatin Trust
Clinical and Molecular Genetics Unit

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
SCHAERBEEK (BRUXELLES)

Belgian familial Lynch syndrome registry
FAPA
Familial Adenomatous Polyposis Association A.S.B.L./V.Z.W.

FRANCE

BOURGOGNE-FRANCHE-COMTE
DIJON

Breast and other gynecological cancers registry of Côte-d'Or
CLCC Georges François Leclerc
Centre de Recherche Clinique (CRC)

FRANCE

ILE-DE-FRANCE
SAINT-CLOUD

UMD BRCA2 (Breast cancer 2, early onset) mutations database
CLCC Hôpital René Huguenin - Institut Curie
Laboratoire d'oncogénétique

FRANCE

ILE-DE-FRANCE
SAINT-CLOUD

GENEPSO: French BRCA1 and 2 carrier cohort study
CLCC Hôpital René Huguenin - Institut Curie
Service d'Epidémiologie Clinique et d'Information Médicale, Oncogénétique Clinique

FRANCE

OCCITANIE
MONTPELLIER

UMD TGFBR2 (transforming growth factor, beta receptor II) mutations database
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

FRANCE

OCCITANIE
MONTPELLIER

UMD VHL (von Hippel-Lindau tumor suppressor) mutations database
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

GERMANY

Baden-Württemberg
FREIBURG

Von Hippel-Lindau registry -terminated-
Universitätsklinikum Freiburg
Klinik für Innere Medizin IV - Nephrologie und Allgemeinmedizin

GERMANY

Niedersachsen
MEPPEN

VHL-Biobank
Verein VHL (von Hippel-Lindau) betroffener Familien e.V.

GERMANY

Sachsen-Anhalt
MAGDEBURG

GPOH-MET Registry: Registry for children and adolescents with malignant endocrine tumour
Universitätsklinikum Magdeburg A.ö.R
Bereich Pädiatrische Hämatologie und Onkologie

SWITZERLAND

Suisse Alémanique
BERN

SwissNET - Registry for Neuroendocrine Tumours in Switzerland
University Hospital Inselspital
SwissNET - Registry for Neuroendocrine Tumours in Switzerland

FRANCE

AUVERGNE-RHONE-ALPES
BRON

UMD MEN1 (multiple endocrine neoplasis I) mutations database
CHU de Lyon HCL - GH Est
Unité Médicale de Génétique des Cancers et des Maladies Multifactorielles

GERMANY

Bayern
MÜNCHEN

ITALY

TOSCANA
FIRENZE

Italian register multiple endocrine neoplasia
Azienda Ospedaliero Universitaria Careggi
S.O.D. Malattie del Metabolismo Minerale ed Osseo

Networks of registries and biobanks

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