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Registres et biobanques

ALLEMAGNE

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

AUSTRALIE

Victoria
MEKBOURNE

Haemoglobinopathy Registry
Monash University
Department of Epidemiology & Preventive Medicine

AUSTRALIE

Victoria
MEKBOURNE

Aplastic Anaemia Registry (AAR)
Monash University
Department of Epidemiology & Preventive Medicine

BELGIQUE

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Hémoglobinopathies - database
Erasme Hospital - ULB
Centre de génétique humaine - ULB

BELGIQUE

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

ESPAGNE

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

ESPAGNE

Aragón
ZARAGOZA

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

ESPAGNE

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

ESPAGNE

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

ESPAGNE

Cataluña
BARCELONA

Financé par un membre IRDiRCERN [EuroBloodNet] - ENROL: European Rare Blood Disorders Platform
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación traslacional en cáncer en la infancia y la adolescencia

ESPAGNE

Cataluña
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

ESPAGNE

Comunidad Valenciana
VALENCIA

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

ESPAGNE

Extremadura
MÉRIDA

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

ESPAGNE

Galicia
SANTIAGO DE COMPOSTELA

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

ESPAGNE

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

ESPAGNE

Madrid
MADRID

REHem-AR-SEHOP: Spanish Registry of Hemoglobinopathies and Rare Anemias from the Spanish Society of Paediatric Haematology and Oncology
Hospital Materno Infantil Gregorio Marañón
Sección de Oncología y Hematología Pediátricas y del Adolescente

ESPAGNE

Madrid
MADRID

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

ESPAGNE

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

ESPAGNE

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

FINLANDE

Finland
HELSINKI

The Finnish Hematology Registry and Clinical Biobank (FHRB Biobank)
HUS - Helsinki University Hospital
Hematology Clinic

FRANCE

ILE-DE-FRANCE
PARIS

Banque Nationale de Données Maladies Rares (BNDMR)
AP-HP Campus Picpus - Département WIND (Web Innovation Données)
Banque Nationale de Données Maladies Rares (BNDMR)

GRECE

GREECE
ATHENS

National Registry for Haemoglobinopathies in Greece (NRHG)
Laiko General Hospital
Thalassaemia Centre

PAYS-BAS

Zuid-Holland
LEIDEN

Biobank Hemoglobinopathy (DNA)
LUMC - Leids Universitair Medisch Centrum
Afdeling Klinische Genetica

ROYAUME-UNI

Greater London
LONDON

EHR: European Haemoglobinopathy Registry
North West London Hospitals NHS - Central Middlesex Hospital
Middlesex Sickle Cell & Thalassaemia Centre

ROYAUME-UNI

Greater London
LONDON

NHR: National Haemoglobinopathy Registry
North West London Hospitals NHS - Central Middlesex Hospital
Brent Sickle Cell & Thalassaemia Centre

SUISSE

Suisse Alémanique
BERN

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

ALLEMAGNE

Baden-Württemberg
HEIDELBERG

GPOH-registry sickle cell disease
Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
Klinik für Kinderheilkunde III - Pädiatrische Onkologie, Hämatologie, Immunologie und Pneumologie

ALLEMAGNE

Niedersachsen
HANNOVER

Central national database for incidence and outcome of congenital bone marrow failure syndromes, biobank and database of the BMFS-Network
Medizinische Hochschule Hannover
Koordinationsstelle des Netzwerkes für angeborene Störungen der Blutbildung

ALLEMAGNE

Nordrhein-Westfalen
DÜSSELDORF

German central registry for Sickle cell disease
Universitätsklinikum Düsseldorf
Klinik für Kinder-Onkologie, -Hämatologie und klinische Immunologie

ETATS-UNIS

Pennsylvania
UNIVERSITY PARK

The Globin Gene Server / beta globin (HBB)
Huck Institutes of the Life Sciences, Pennsylvania State University
Center for Comparative Genomics and Bioinformatics

PAYS-BAS

Gelderland
NIJMEGEN

Radboud Biobank - Iron Biobank (cell lines, DNA, serum and urine)
Radboudumc - Radboud universitair medisch centrum
Translationeel Metabool Laboratorium

ALLEMAGNE

Baden-Württemberg
FREIBURG

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

ALLEMAGNE

Baden-Württemberg
ULM

German paroxysmal nocturnal hemoglobinuria registry
DRK Baden-Württemberg/ Hessen
Institut für Klinische Transfusionsmedizin und Immungenetik Ulm

ALLEMAGNE

Niedersachsen
HANNOVER

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

AUTRICHE

STEIERMARK
GRAZ

Severe Immune Cytopenia Registry
Medizinische Universität Graz
Klinische Abteilung für pädiatrische Hämato-Onkologie

AUTRICHE

WIEN
WIEN

International aHUS registry
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Hämatologie und Hämostaseologie

BELGIQUE

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Belgian sickle cell anemia registry
Hôpital Universitaire des Enfants Reine Fabiola - HUDERF
Service d'hémato-oncologie, d'immunologie et de rhumatologie pédiatrique

BULGARIE

 South Central region
PLOVDIV

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

ESPAGNE

Castilla - León
SALAMANCA

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

ESPAGNE

Cataluña
BELLATERRA

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

ESPAGNE

Madrid
MADRID

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

ESPAGNE

Madrid
MADRID

aHUS/C3G: Atypical Hemolytic Uremic Syndrome (aHUS) and C3 Glomerulopathy (C3G) Database
Centro de Investigaciones Biológicas (CSIC)
Departamento de Medicina Celular y Molecular

ETATS-UNIS

Illinois
CHICAGO

PNH Registry: Paroxysmal Nocturnal Hemoglobinuria registry
ICON Clinical Research - Lifecycle science group
ICON Clinical Research

ETATS-UNIS

New York
NEW YORK

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

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Registre mondial de l'aHUS
Institution: Information not provided - FR

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Registre français de la drépanocytose
CHU Henri Mondor
Unité des Maladies Génétiques du Globule Rouge

FRANCE

ILE-DE-FRANCE
CRÉTEIL

FRANCE

ILE-DE-FRANCE
PARIS

Registre français du syndrome hémolytique urémique atypique de l'enfant
CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
Laboratoire d'Immunologie biologique

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Registre français labellisé des patients atteints de thalassémie
CHU de Marseille - Hôpital de la Timone
Laboratoire de génétique moléculaire

IRLANDE

County Dublin
DUBLIN

Financé par un membre IRDiRCIrish Registry for homocystinurias and methylation defects - contributes to E-HOD
Children's University Hospital
National Centre for Inherited Metabolic Disorders

ITALIE

CAMPANIA
NAPOLI

International Registry of congenital dyserythropoietic anemia II
Biotecnologie Avanzate Srl
Area Funzionale di Genetica Medica

ITALIE

CAMPANIA
NAPOLI

RIAF: Fanconi's Anemia Italian Registry
P.S.I. "Elena d'Aosta"
U.O.C. Servizio di Genetica

ITALIE

LIGURIA
GENOVA

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

ITALIE

LOMBARDIA
PAVIA

RIMM: Italian registry for myelofibrosis with myeloid metaplasia
Fondazione IRCCS Policlinico San Matteo
Laboratorio di Epidemiologia Clinica

ITALIE

LOMBARDIA
RANICA

Financé par un membre IRDiRCInternational registry of recurrent and familial hemolytic uremic syndrome/thrombotic thrombocytopenic purpura
Istituto di Ricerche Farmacologiche Mario Negri
Centro di Ricerche Cliniche per le Malattie Rare

ITALIE

SICILIA
PALERMO

Sicilian Registry of Thalassemia and Hemoglobinopathies (Re.S.T.E.)
Ossevatorio Epidemiologico dell Assessorato regionale

ITALIE

VENETO
PADOVA

ITALIE

VENETO
VERONA

Italian Registry for patients with Shwachman Diamond Syndrome
Azienda Ospedaliera Universitaria Integrata di Verona - Ospedale Borgo Trento
Centro Fibrosi Cistica

PAYS-BAS

Noord-Holland
AMSTERDAM

POLOGNE

Lodz
LODZ

Registry for Wolfram syndrome, Astrom syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes contributing do EURO-WABB
Uniwersytecki Szpital Kliniczny nr 4 im. Marii Konopnickiej
Pracownia Immunopatologii I Genetyki - Laboratory of Immunopathology and Genetics

PORTUGAL

NORTE
PORTO

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

ROYAUME-UNI

Cheshire
KNUTSFORD

ROYAUME-UNI

North Yorkshire
YORK

UK & Ireland Fanconi Anaemia Registry
The University of York
Epidemiology and Genetics Unit

SUEDE

Region Skåne
LUND

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

SUEDE

Region Skåne
LUND

SBDSbase: Mutation registry for Shwachman-Diamond syndrome
Lund University
Department of Experimental Medical Science

SUISSE

Suisse Alémanique
BERN

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

TURQUIE

TURKEY
ANKARA

Turkish pediatric atypical hemolytic uremic syndrome registry
Hacettepe University Faculty of Medicine
Department of Pediatrics Nephrology and Rheumatology

ALLEMAGNE

Baden-Württemberg
FREIBURG

ALLEMAGNE

Baden-Württemberg
HEIDELBERG

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

ALLEMAGNE

Baden-Württemberg
HEIDELBERG

Financé par un membre IRDiRCEIMD: European registry and network for intoxication type metabolic diseases
Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin

ALLEMAGNE

Nordrhein-Westfalen
MÜNSTER

HUSEC reference strain collection
Universität Münster
Konsiliarlabor für Hämolytisch-Urämisches Syndrom (HUS)

ESPAGNE

País Vasco
DERIO

Human Uroporphyrinogen III Synthase mutant collection
Centro de Investigación Cooperativa en Biociencias (CIC bioGUNE)
Centro de Investigación Cooperativa en Biociencias

FRANCE

BRETAGNE
RENNES

Registre français sur les surcharges en fer rares d'origine génétique, non liées au gène HFE
CHU de Rennes - Hôpital Pontchaillou
Service des maladies du foie

ITALIE

LAZIO
ROMA

Italian registry of hemolytic uremic syndrome
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALIE

PUGLIA
VALENZANO

The Italian multi-region thalassaemia registry
Fondazione per la Ricerca Farmacologica Gianni Benzi
Fondazione per la Ricerca Farmacologica Gianni Benzi Onlus

ROYAUME-UNI

Greater London
LONDON

UKESR: United Kingdom Evans Syndrome Registry
Barts Health NHS trust - The Royal London Hospital-Pathology Pharmacy Building
Department of Haematology

ROYAUME-UNI

West Midlands
BIRMINGHAM

Financé par un membre IRDiRCEIMD: European registry and network for intoxication type metabolic diseases
Birmingham Children's Hospital NHS Foundation Trust
Department of Clinical Inherited Metabolic Disorders

SUEDE

Region Skåne
LUND

C3base: Mutation registry for C3 deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skåne
LUND

CFHbase: Mutation registry for Factor H deficiency (previously known as HF1base)
Lund University
Department of Experimental Medical Science

SUEDE

Region Skåne
LUND

CFIbase: Mutation registry for Factor I deficiency (previously known as IFbase)
Lund University
Department of Experimental Medical Science

SUEDE

Region Skåne
LUND

TCN2base: Mutation registry for Transcobalamin II deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skåne
LUND

CD59base: Mutation registry for CD59 deficiency
Lund University
Department of Experimental Medical Science

ALLEMAGNE

Nordrhein-Westfalen
MÜNSTER

ESPAGNE

Cataluña
BARCELONA

Financé par un membre IRDiRCEUROMAC: Registry of patients affected by McArdle Disease
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en patología neuromuscular y mitocondrial

Réseaux de registres et biobanques

ESPAGNE

Madrid
MADRID

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

    Niedersachsen
    HANNOVER

    BMFS: Network for Congenital Bone Marrow Failure Syndromes (patient registry)
  • Medizinische Hochschule Hannover
  • Koordinationsstelle des Netzwerkes für angeborene Störungen der Blutbildung
  • PAYS-BAS

    Noord-Holland
    AMSTERDAM

    Financé par un membre IRDiRCE-HOD - European network and registry for homocystinurias and methylation defects
  • Amsterdam UMC, locatie VUmc
  • Afdeling Interne Geneeskunde
  • ROYAUME-UNI

    West Midlands
    BIRMINGHAM

    ALLEMAGNE

    Baden-Württemberg
    HEIDELBERG

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