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

Registri and biobanche

GERMANIA

Baden-Württemberg
HEIDELBERG

Finanziato da un ente associato a IRDiRCNational Cancer-predisposing syndrome registry
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg

GERMANIA

Niedersachsen
HANNOVER

Finanziato da un ente associato a IRDiRCNational Cancer-predisposing syndrome registry
Medizinische Hochschule Hannover
Klinik für Pädiatrische Hämatologie und Onkologie

PORTOGALLO

CENTRO
COIMBRA

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

PORTOGALLO

ILHAS
AÇORES

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

PORTOGALLO

NORTE
PORTO

North regional cancer registry (RORENO)
Instituto Português de Oncologia do Porto Francisco Gentil, EPE
Registo Oncológico Regional do Norte

AUSTRIA

STEIERMARK
GRAZ

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

AUSTRIA

TIROL
INNSBRUCK

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

BELGIO

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

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

ESTONIA

Tartu
TARTU

Biobank of the Estonian Genome Centre
Institute of Genomics of University of Tartu
The Estonian Genome Centre

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

Baden-Württemberg
FREIBURG

GERMANIA

Baden-Württemberg
FREIBURG

Finanziato da un ente associato a IRDiRCGAIN-Biobank: Consortial Biobank for patients with Inborn Errors of Multi-Organ Autoimmune Diseases
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

GERMANIA

Hessen
MARBURG

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

GERMANIA

Rheinland-Pfalz
MAINZ

German childhood cancer registry (Partner of ACCIS: Automated Childhood Cancer Information System, Member of IACR and ENCR)
Institut für Medizinische Biometrie, Epidemiologie und Informatik (IMBEI)
Deutsches Kinderkrebsregister am IMBEI

ITALIA

EMILIA ROMAGNA
BOLOGNA

Registro della malattia di Ollier e della sindrome di Maffucci - ROM
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche

ITALIA

LAZIO
ROMA

RNMR: Registro Nazionale Malattie Rare
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALIA

LIGURIA
GENOVA

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

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

ITALIA

LIGURIA
GENOVA

Biobanca Genetica del Laboratorio di Genetica Umana (BGU-IGG)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
U.O.C. Laboratorio di Genetica Umana

ITALIA

TOSCANA
PISA

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

ITALIA

VENETO
PADOVA

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

MAROCCO

Rabat
RABAT

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

NORVEGIA

Østlandet
OSLO

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

PAESI BASSI

Gelderland
NIJMEGEN

Finanziato da un ente associato a IRDiRCERN [GENTURIS] - GENTURIS registry: The Genetic Tumour Risk Syndromes Registry
Radboudumc - Radboud universitair medisch centrum
Sectie Klinische Genetica

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

SPAGNA

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

SPAGNA

Aragón
ZARAGOZA

Finanziato da un ente associato a IRDiRCRare disease registry of Aragon (Spain)
Gobierno de Aragón. Departamento de Sanidad
Servicio de Evaluación y Acreditación Sanitaria

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)
Generalitat Valenciana. Conselleria de Sanitat Universal i Salut Pública
Servicio de Estudios Epidemiológicos y Vigilancia de Enfermedades No Transmisibles

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

Extremadura
MÉRIDA

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

SPAGNA

Galicia
SANTIAGO DE COMPOSTELA

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

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

Madrid
MADRID

Finanziato da un ente associato a IRDiRCRePER: Rare Diseases Patient Registry
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

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

SPAGNA

País Vasco
BARAKALDO

Finanziato da un ente associato a IRDiRCBasque Biobank
BIOEF - Fundación Vasca de Innovación e Investigación Sanitarias
Biobanco Vasco

SPAGNA

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

STATI UNITI

South Dakota
SIOUX FALLS

SVEZIA

Region Skåne
LUND

CD19base: Mutation registry for CD19 deficiency
Lunds Universitet
Department of Experimental Medical Science

SVEZIA

Region Skåne
LUND

DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome and dyskeratosis congenita
Lunds Universitet
Department of Experimental Medical Science

SVEZIA

Region Skåne
LUND

ICOSbase: Mutation registry for ICOS deficiency
Lunds Universitet
Department of Experimental Medical Science

SVEZIA

Region Skåne
LUND

SVEZIA

Region Skåne
LUND

SVEZIA

Region Skåne
LUND

TNFRSF13Bbase: Mutation registry for TACI deficiency
Lunds Universitet
Department of Experimental Medical Science

SVEZIA

Region Skåne
LUND

HAX1base: Mutation registry for Severe congenital neutropenia (Kostmann disease)
Lunds Universitet
Department of Experimental Medical Science

BELGIO

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Finanziato da un ente associato a IRDiRCEuRRECa: European Registries for Rare Endocrine Conditions - Belgian contribution (HUDERF)
Hôpital Universitaire des Enfants Reine Fabiola - HUDERF
Unité d'endocrinologie - HUDERF

BELGIO

ARRONDISSEMENT BRUSSELS-CAPITAL
SCHAERBEEK (BRUXELLES)

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

BELGIO

OOST-VLAANDEREN
GENT

Finanziato da un ente associato a IRDiRCI-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

DANIMARCA

Hovedstaden
COPENHAGEN

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

FRANCIA

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

FRANCIA

CENTRE-VAL DE LOIRE
TOURS

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

FRANCIA

GRAND-EST
STRASBOURG

UMD CSB (ERCC6) mutations database
CHU de Strasbourg - Hôpital de Hautepierre
Service de Neuropédiatrie

FRANCIA

GRAND-EST
VANDOEUVRE-LÈS-NANCY

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

FRANCIA

ILE-DE-FRANCE
CRÉTEIL

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

FRANCIA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Finanziato da un ente associato a IRDiRCRaDiCo-IDMet: National and European cohort on Imprinting Disorders and their metabolic consequences
Hôpital Bicêtre, GHU APHP. Université Paris Saclay
Service d'Endocrinologie et Diabète de l'Enfant

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCRaDiCo-IDMet: National and European cohort on Imprinting Disorders and their metabolic consequences
AP-HP.Sorbonne Université - Hôpital d'Enfants Armand-Trousseau
Endocrinologie Moléculaire et Pathologies d'empreinte

FRANCIA

ILE-DE-FRANCE
PARIS

MUTP53LOAD: Mutant p53 Loss Of Activity Database
CLCC Institut Curie
Laboratoire de Génotoxicologie des Tumeurs

FRANCIA

ILE-DE-FRANCE
PARIS

UMD LMNA (Lamin A/C) mutations database
Institut de Myologie - Hôpital Pitié-Salpêtrière
Centre de Recherche en Myologie

FRANCIA

OCCITANIE
MONTPELLIER

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

GERMANIA

Baden-Württemberg
FREIBURG

National registry for Blackfan-Diamond disease
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie

GERMANIA

Baden-Württemberg
FREIBURG

Hilda biobank for children at the University Medical Center Freiburg - diagnostic and research on biomaterials of children and adolescents
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie

GERMANIA

Bayern
MÜNCHEN

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

GERMANIA

Hessen
FRANKFURT AM MAIN

Ataxia-Telangiectasia patient registry - contributes to the ESID Database
Universitätsklinikum Frankfurt
Schwerpunkt Allergologie, Pneumologie und Mukoviszidose

GERMANIA

Niedersachsen
HANNOVER

German Fanconi anemia registry
Medizinische Hochschule Hannover
Klinik für Pädiatrische Hämatologie und Onkologie

GERMANIA

Sachsen-Anhalt
MAGDEBURG

ITALIA

CAMPANIA
NAPOLI

RIAF: Registro Italiano Anemia di Fanconi
P.S.I. "Elena d'Aosta"
Laboratorio di Genetica Medica

ITALIA

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

Registro della Neurofibromatosi
Institution: Information not provided - IT

ITALIA

EMILIA ROMAGNA
BOLOGNA

Registro Nazionale per la sindrome di Li-Fraumeni
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche

ITALIA

LAZIO
ROMA

RIAT: Registro Italiano per l'Atassia Teleangiectasia
A.O. S. Andrea
Servizio di Genetica Medica

ITALIA

LAZIO
ROMA

ITALIA

PUGLIA
SAN GIOVANNI ROTONDO

Biobanca genetica di pazienti con Sindrome di Williams-Beuren ed altri disordini genomici
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
U.O.C. Genetica Medica

ITALIA

TOSCANA
FIRENZE

Registro italiano neoplasia endocrina multipla di tipo 1
FIRMO - Fondazione Italiana Ricerca sulle Malattie dell'Osso

ITALIA

VENETO
PADOVA

Registro Nord-Est Italia delle Neurofibromatosi
Azienda Ospedaliera di Padova
U.O.C. Genetica ed Epidemiologia Clinica

ITALIA

VENETO
VERONA

RI-SDS: Registro Italiano per la Sindrome di Shwachman Diamond
Azienda Ospedaliera Universitaria Integrata di Verona - Ospedale Borgo Trento
Centro Fibrosi Cistica

PAESI BASSI

Gelderland
NIJMEGEN

Finanziato da un ente associato a IRDiRCERN [eUROGEN] - ERN eUROGEN Registry for rare urogenital diseases
Radboudumc - Radboud universitair medisch centrum
Afdeling Kinderurologie

PAESI BASSI

Gelderland
NIJMEGEN

Finanziato da un ente associato a IRDiRCERN [eUROGEN] - ERN eUROGEN Registry for rare urogenital diseases
Radboudumc - Radboud universitair medisch centrum
Afdeling Health Evidence

PAESI BASSI

Noord-Holland
AMSTERDAM

Biobank CEEx study (fibroblasts)
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica

PAESI BASSI

Noord-Holland
AMSTERDAM

Biobank CEEx study (fibroblasts)
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde

PAESI BASSI

Zuid-Holland
LEIDEN

European Parathyroid Tumor Registry
LUMC - Leids Universitair Medisch Centrum
Afdeling Pathologie

PAESI BASSI

Zuid-Holland
ROTTERDAM

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

REGNO UNITO; GRAN BRETAGNA

Hertfordshire
HARPENDEN

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

SPAGNA

Asturias
OVIEDO

REGMEN: Spanish registry of multiple endocrine neoplasia, pheochromocitomas/paragangliomas
Hospital Universitario Central de Asturias
Servicio de Endocrinología y Nutrición

SPAGNA

Baleares
PALMA DE MALLORCA

Finanziato da un ente associato a IRDiRCRERIB: Population registry of rare diseases of Balearic Islands (Spain)
Govern de les Illes Balears. Consejería de Salud y Consumo
Servicio de Epidemiología

SPAGNA

Castilla - León
SALAMANCA

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

SPAGNA

Cataluña
BARCELONA

Collection of samples of DNA repair syndromes integrated into the National Biobank of Rare Diseases (BioNER)
IIB Sant Pau - Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Servicio de análisis de fragilidad cromosómica

SPAGNA

Madrid
MADRID

Spanish Registry of Patients with Fanconi Anemia
CIEMAT - Centro de Investigaciones Energéticas Medioambientales y Tecnológicas
Terapias innovadoras en el sistema hematopoyético

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCSIERMA: Information system on rare diseases in Madrid (Spain)
Comunidad de Madrid. Direccion General de Salud Publica
Subdirección General de Vigilancia en Salud Pública

STATI UNITI

New York
NEW YORK

IFAR: International Fanconi Anemia patient Registry
The Rockefeller University
Laboratory of Genome Maintenance

SVEZIA

Region Skåne
LUND

BLMbase: Mutation registry for Bloom Syndrome
Lunds Universitet
Department of Experimental Medical Science

SVEZIA

Region Skåne
LUND

CASP10base: Mutation registry for Autoimmune lymphoproliferative syndrome, type II (ALPS2)
Lunds Universitet
Department of Experimental Medical Science

SVEZIA

Region Skåne
LUND

CASP8base: Mutation registry for Caspase 8 deficiency
Lunds Universitet
Department of Experimental Medical Science

SVEZIA

Region Skåne
LUND

LIG4base: Mutation registry for LIG4 syndrome
Lunds Universitet
Department of Experimental Medical Science

SVEZIA

Region Skåne
LUND

MRE11Abase: Mutation registry for Ataxia-telangiectasia-like disorder (ATLD)
Lunds Universitet
Department of Experimental Medical Science

SVEZIA

Region Skåne
LUND

SBDSbase: Mutation registry for Shwachman-Diamond syndrome
Lunds Universitet
Department of Experimental Medical Science

SVEZIA

Region Skåne
LUND

SH2D1Abase: Mutation registry for X-linked lymphoproliferative syndrome (XLP)
Lunds Universitet
Department of Experimental Medical Science

SVEZIA

Region Skåne
LUND

WASbase: Mutation registry for Wiskott-Aldrich syndrome (WAS)
Lunds Universitet
Department of Experimental Medical Science

SVEZIA

Region Skåne
LUND

BIRC4base: Mutation registry for X-linked lymphoproliferative syndrome
Lunds Universitet
Department of Experimental Medical Science

SVEZIA

Region Skåne
LUND

NRASbase: Mutation registry for Autoimmune lymphoproliferative syndrome type IV
Lunds Universitet
Department of Experimental Medical Science

SVEZIA

Region Stockholm
SOLNA

RMMS: Registry of Inherited Metabolic Diseases
Karolinska Universitetssjukhuset
CMMS - Centre for Inherited Metabolic Diseases

SVIZZERA

Suisse Alémanique
BASEL

SACHER: Swiss Adult Congenital HEart disease Registry
Universitätsspital Basel
Kardiologische Klinik - Spezial-Sprechstunden

SVIZZERA

Suisse Alémanique
BERN

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

SVIZZERA

Suisse Alémanique
BERN

SwissNET - Registry for Neuroendocrine Tumours in Switzerland
Universitätsspital Inselspital
SwissNET - Registry for Neuroendocrine Tumours in Switzerland

TURCHIA

TURKEY
ISTANBUL

ptenturkey
Demiroglu Bilim University Faculty of Medicine Department of Medical Genetics
Medical Genetics

UNGHERIA

Dél-Dunántúl
PECS

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

UNGHERIA

Dél-Dunántúl
PECS

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

UNGHERIA

Közép-Magyarország
BUDAPEST

National NF Register
Nemzeti NF Regiszter
NF Magyarorszag

BELGIO

ARRONDISSEMENT BRUSSELS-CAPITAL
SCHAERBEEK (BRUXELLES)

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

FRANCIA

GRAND-EST
STRASBOURG

UMD CSA (ERCC8) mutations database
CHU de Strasbourg - Hôpital de Hautepierre
Service de Neuropédiatrie

FRANCIA

ILE-DE-FRANCE
PARIS

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

FRANCIA

OCCITANIE
MONTPELLIER

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

ITALIA

PUGLIA
SAN GIOVANNI ROTONDO

Raccolta dei micro-RNA dai tessuti normali e tumorali di pazienti con tumore del colon retto
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
Laboratorio di Ricerca U.O.C. di Gastroenterologia

ITALIA

PUGLIA
SAN GIOVANNI ROTONDO

Raccolta dei micro-RNA dai tessuti normali e tumorali di pazienti con tumore del colon retto
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
Laboratorio di Ricerca Divisione di Gastroenterologia

Network di registri and biobanche

MALTA

MALTA
MALTA

EuroBioBank: European Network of DNA, Cell and Tissue banks for rare diseases
  • Universita ta Malta
  • Molecular Genetics Laboratory
  • REGNO UNITO; GRAN BRETAGNA

    Hertfordshire
    HARPENDEN

    Finanziato da un ente associato a IRDiRCInternational A-T Registry
  • AT Society
  • A-T Patient Registry