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Funded by an IRDiRC member =

Registries and Biobanks

AUSTRIA

WIEN
WIEN

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

FRANCE

ILE-DE-FRANCE
PARIS

French Registry of Atypical Hemolytic Uremic Syndrome (aHUS) in Children
CHU Paris - Hôpital Robert Debré
Service de Néphrologie - Hémodialyse

FRANCE

ILE-DE-FRANCE
PARIS

French constitutive hematologic diseases registry
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
Service d'hématologie pédiatrique

ITALY

LOMBARDIA
RANICA

Funded by an IRDiRC memberInternational 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

SPAIN

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

TURKEY

TURKEY
ANKARA

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

UNITED KINGDOM

Cheshire
KNUTSFORD

The Global aHUS Registry
Answers for aHUS
aHUS UK

FINLAND

Finland
HELSINKI

SPAIN

País Vasco
DERIO

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

SPAIN

País Vasco
DERIO

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

SWEDEN

Skane
LUND

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

SWEDEN

Skane
LUND

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

SWEDEN

Skane
LUND

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

SWEDEN

Skane
LUND

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

AUSTRIA

TIROL
INNSBRUCK

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

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

GERMANY

Nordrhein-Westfalen
MÜNSTER

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

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberEUROMAC: Registry of patients affected by McArdle Disease
Vall d'Hebron Institut de Recerca VHIR
Unidad de Patología Neuromuscular y Mitocondrial

SPAIN

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

SPAIN

Madrid
MADRID

CIBERER Biobank (Biobank of rare diseases)
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

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

País Vasco
BARAKALDO

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

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