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Gefinancierd door een IRDiRC-lid = Member of a ERN =

Registers en biobanken

AUSTRALIË

Queensland
SOUTH BRISBANE

Global Angelman Syndrome Registry
Centre for Children's Health Research
Developmental Paediatrics Group, Mater Research

BELGIË

ANTWERPEN
ANTWERPEN

Antwerpen registry of congenital anomalies - contributes to the EUROCAT network
Provinciaal Instituut voor Hygiëne (PIH)- Antwerpen
EUROCAT Belgium_Antwerpen

BELGIË

ANTWERPEN
ANTWERPEN

Collection of FRA12A carrier DNA samples
University of Antwerp - UA
Medical Genetics Unit

BELGIË

HAINAUT
GOSSELIES

Hainaut and Namur registry of congenital anomalies - contributes to the EUROCAT network
Institut de Pathologie et de Génétique
Département de Génétique Clinique - Institut de Pathologie et de Génétique (IPG)

BELGIË

OOST-VLAANDEREN
GENT

I-DSD: Internationale register voor aandoeningen van geslachtsontwikkeling -Vlaanderen bijdrage (UZ Gent)
Ghent University Hospital - UZ Gent
Het Centrum voor geslachtsontwikkeling [DSD team] - UZ Gent

DENEMARKEN

Syddanmark
ODENSE

Funen county registry of congenital anomalies - contributes to the EUROCAT network
University of Southern Denmark
Epidemiology department

DUITSLAND

Bayern
MÜNCHEN

MD-NET: Muscle Tissue Culture Collection (MTCC) (EuroBioBank partner)
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

DUITSLAND

Hamburg
HAMBURG

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

DUITSLAND

Rheinland-Pfalz
MAINZ

Mainz registry of congenital anomalies - contributes to the EUROCAT network
Universitätsmedizin Mainz
Geburtenregister Mainzer Modell

DUITSLAND

Sachsen-Anhalt
MAGDEBURG

Centre Saxony-Anhalt registry of congenital anomalies - contributes to the EUROCAT network
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

FINLAND

Finland
HELSINKI

Register of Congenital Malformations
Terveyden ja hyvinvoinnin laitos (THL)
Finnish Institute for Health and Welfare (THL)

FRANKRIJK

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

French registry of Kabuki syndrome
Institution: Information not provided - FR

FRANKRIJK

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Auvergne registry of congenital anomalies - contributes to the EUROCAT network
CHU de Clermont-Ferrand - Hôpital d'Estaing
Service de génétique médicale

FRANKRIJK

AUVERGNE-RHONE-ALPES
LYON

Rhône-Alpes registry of congenital anomalies - contributes to the EUROCAT network
Registre des Malformations en Rhône Alpes
Registre des Malformations en Rhône Alpes REMERA

FRANKRIJK

BRETAGNE
RENNES

FRANKRIJK

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Gefinancierd door een IRDiRC-lidRaDiCo-GenIDA: International social network for data collection on the natural history of rare monogenic forms of intellectual disabilities
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

FRANKRIJK

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Gefinancierd door een IRDiRC-lidRaDiCo-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

FRANKRIJK

ILE-DE-FRANCE
PARIS

FRANKRIJK

ILE-DE-FRANCE
PARIS

Gefinancierd door een IRDiRC-lidRaDiCo-IDMet: National and European cohort on Imprinting Disorders and their metabolic consequences
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Service Explorations fonctionnelles Endocriniennes

FRANKRIJK

OUTRE-MER
FORT DE FRANCE

French West Indies registry of congenital anomalies - contributes to the EUROCAT network
CHU de Martinique - Maison de la Femme, de la Mère et de l'Enfant
Centre Pluridisciplinaire de Diagnostic Prénatal (CPDP)

FRANKRIJK

OUTRE-MER
SAINT-PIERRE

La Réunion Fench Island registry of congenital anomalies - contributes to the EUROCAT network
CHU de la Réunion - GH Sud Réunion - Saint-Pierre
Service de Génétique Médicale

HONGARIJE

Dél-Dunántúl
PECS

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

IERLAND

County Cork
CORK

IERLAND

County Dublin
DUBLIN

Gefinancierd door een IRDiRC-lidIrish Registry for homocystinurias and methylation defects - contributes to E-HOD
Children's Health Ireland @ Temple Street
National Centre for Inherited Metabolic Disorders

IERLAND

County Dublin
DUBLIN

Dublin registry of congenital anomalies - contributes to the EUROCAT network
Health Services Executive
HSE Registry of Congenital Anomalies (East)

IERLAND

County Kilkenny
KILKENNY

South East of Ireland registry of congenital anomalies - part of BINOCAR and EUROCAT network
Health Service Executive South SE
South East of Ireland registry of congenital anomalies

ITALIË

CAMPANIA
BENEVENTO

Campania registry of congenital anomalies - contributes to the EUROCAT network
A.O.R.N. "Gaetano Rummo"
U.O.C. di Genetica Medica

ITALIË

LIGURIA
GENOVA

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

ITALIË

LOMBARDIA
BERGAMO

Angelman Syndrome Italian Registry (RISA)
ASST Papa Giovanni XXIII
Fondazione per la Ricerca dell'Ospedale di Bergamo

ITALIË

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

ITALIË

SICILIA
CATANIA

ISMAC: Sicilian registry of congenital anomalies - contributes to the EUROCAT network
ASMAC
Associazione per la Prevenzione Sociale e per il Trattamento delle Malformazioni Congenite

ITALIË

TOSCANA
PISA

Tuscan Registry of Congenital Anomalies
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Unità di Ricerca Epidemiologia Ambientale e Registri di Patologia

ITALIË

VENETO
PADOVA

North-East of Italy registry of congenital anomalies - contributes to the EUROCAT network
Azienda Ospedaliera di Padova
U.O.C. Genetica Clinica ed Epidemiologica

MALTA

MALTA
G'MANGIA

MALTA CONGENITAL ANOMALIES REGISTRY (MCAR) - it contributes to EUROCAT
Ministry for Health
Directorate of Health Information and Research

NEDERLAND

Gelderland
NIJMEGEN

AGORA: biobank (DNA) voor aangeboren afwijkingen en kinderkanker
Radboudumc - Radboud universitair medisch centrum
Afdeling Kinderurologie

NEDERLAND

Gelderland
NIJMEGEN

AGORA: biobank (DNA) voor aangeboren afwijkingen en kinderkanker
Radboudumc - Radboud universitair medisch centrum
Afdeling Health Evidence

NEDERLAND

Groningen
GRONINGEN

EUROCAT Northern Netherlands - contributes to the international EUROCAT network
UMCG - Universitair Medisch Centrum Groningen
Afdeling Genetica

NEDERLAND

Limburg
MAASTRICHT

Biobank Intellectual Disability and Multiple Congenital Anomalies (DNA)
AZM - Academisch Ziekenhuis Maastricht
Afdeling Klinische Genetica

NEDERLAND

Limburg
MAASTRICHT

Biobank Intellectual Disability and Multiple Congenital Anomalies (DNA)
AZM - Academisch Ziekenhuis Maastricht
Biobank Klinische Genetica Maastricht

NEDERLAND

Noord-Holland
AMSTERDAM

Biobank CEEx studie (fibroblasten)
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica

NEDERLAND

Noord-Holland
AMSTERDAM

Biobank CEEx studie (fibroblasten)
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde

NEDERLAND

Noord-Holland
AMSTERDAM

NEDERLAND

Zuid-Holland
ROTTERDAM

ENCORE Biobank voor Neuro-Cognitieve Ontwikkelingsstoornissen (bloed/speeksel/huidbiopten)
Erasmus MC - Erasmus Medisch Centrum
Afdeling Neurowetenschappen

OOSTENRIJK

STEIERMARK
GRAZ

Styrian registry of congenital anomalies - contributes to the EUROCAT network
Medizinische Universität Graz
Forschungsverein zur Registrierung steirischer Geburtsfehlbildungen

POLEN

Poznan
POZNAN

PRCM: Polish registry of congenital malformations - contributes to the EUROCAT network
Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu
Zaklad Genetyki Medycznej

PORTUGAL

SUL
LISBOA

RENAC - Portuguese registry of congenital anomalies (contributes to the EUROCAT network)
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Departamento de Epidemiologia

USA

Virginia
CHARLOTTESVILLE

GNAO1 International Patient Registry
University of Virginia Health System
Department of Neurology

VERENIGD KONINKRIJK

Cambridgeshire
CAMBRIDGE

UK10K RARE FIND - Familial Intellectual Disability variant database
Addenbrooke's Hospital
Familial Gastric Cancer - Addenbrookes

VERENIGD KONINKRIJK

Cambridgeshire
CAMBRIDGE

UK10K RARE FIND - Familial Intellectual Disability variant database
Wellcome Trust/MRC Building
Cambridge Institute for Medical Research

VERENIGD KONINKRIJK

East Sussex
BRIGHTON

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

VERENIGD KONINKRIJK

Hampshire
SOUTHAMPTON

WANDA - Wessex registry of antenatally detected anomalies - part of BINOCAR and EUROCAT network
Princess Anne Hospital
Paediatric Endocrinology and the Wessex Clinical Genetics Service

VERENIGD KONINKRIJK

Oxfordshire
OXFORD

UK10K RARE CHD - Congenital heart disease variant database
The Wellcome Trust Centre for Human Genetics
Division of Cardiovascular Medicine

ZWITSERLAND

Suisse Alémanique
BASEL

SACHER: Swiss Adult Congenital HEart disease Registry
Universitätsspital Basel
Cardiology Department

ZWITSERLAND

Suisse Alémanique
BERN

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

ZWITSERLAND

Suisse Romande
LAUSANNE

EUROCAT VAUD Switzerland - Registry of congenital malformations of canton Vaud
Centre Hospitalier Universitaire Vaudois CHUV
Département Femme-Mère-Enfant - Maternité

AUSTRALIË

New South Wales
WESTMEAD

RettBASE: RettSyndrome.org variation database
University of Sydney
Children's Hospital - Paediatrics and Child Health

BELGIË

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

CANADA

Ontario
BRAMPTON

Fragile X Patient Registry
FXRFC
Fragile X Research Foundation of Canada

DUITSLAND

Niedersachsen
GÖTTINGEN

ESNEK - Rare paediatric neurological disease registry Germany
Universitätsmedizin Göttingen
Geschäftsstelle der ESNEK

DUITSLAND

Nordrhein-Westfalen
BONN

GEPARD: genebank of Parkinson's disease
Universitätsklinikum Bonn (AöR)
Klinik und Poliklinik für Neurologie

DUITSLAND

Nordrhein-Westfalen
MÜNSTER

Brain-Net - brain tissue bank Munster (pediatric neuropathology)
Institut für Neuropathologie der Medizinischen Fakultät Münster
Institut für Neuropathologie

FRANKRIJK

GRAND-EST
STRASBOURG

Mutation registry of the Coffin-Lowry syndrome
CHU de Strasbourg - Hôpital Civil
Laboratoire de diagnostic génétique

FRANKRIJK

GRAND-EST
STRASBOURG

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

FRANKRIJK

GRAND-EST
STRASBOURG

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

FRANKRIJK

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)

FRANKRIJK

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

HONGARIJE

Dél-Dunántúl
PECS

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

ITALIË

TOSCANA
FIRENZE

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

ITALIË

TOSCANA
SIENA

Cells lines and DNA bank of Rett syndrome and other X-linked mental retardation
Azienda Ospedaliera Universitaria Senese - Policlinico Santa Maria alle Scotte
U.O.C. di Genetica Medica

ITALIË

TOSCANA
SIENA

Rett Syndrome Database
Azienda Ospedaliera Universitaria Senese - Policlinico Santa Maria alle Scotte
U.O.C. di Genetica Medica

NEDERLAND

Groningen
GRONINGEN

L1CAM Mutation Database
UMCG - Universitair Medisch Centrum Groningen
Laboratorium DNA Diagnostiek

PORTUGAL

NORTE
PORTO

Portuguese Rett syndrome registry
Hospital de Santo António - Centro Hospitalar do Porto
Serviço de Pediatria Médica

SPANJE

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

SPANJE

Aragón
ZARAGOZA

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

SPANJE

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

SPANJE

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

SPANJE

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

SPANJE

Cataluña
BELLATERRA

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

SPANJE

Comunidad Valenciana
VALENCIA

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

SPANJE

Extremadura
MÉRIDA

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

SPANJE

Galicia
SANTIAGO DE COMPOSTELA

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

SPANJE

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

SPANJE

Madrid
MADRID

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

SPANJE

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

SPANJE

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

VERENIGD KONINKRIJK

Tayside
EDINBURGH

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

ZWEDEN

Region Skåne
LUND

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

ZWITSERLAND

Suisse Alémanique
BERN

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

ZWITSERLAND

Suisse Alémanique
ZÜRICH

Swiss Rare Disease Registry
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten

BULGARIJE

 South Central region
PLOVDIV

National registry of patients with mucopolysaccharidosis type II (MPS2) - BG
BAPES - Bulgarian Association for Promotion of Education and Science
Information Centre for Rare Diseases and Orphan Drugs

DUITSLAND

Baden-Württemberg
HEIDELBERG

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

DUITSLAND

Baden-Württemberg
HEIDELBERG

Gefinancierd door een IRDiRC-lidEIMD: 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

DUITSLAND

Hamburg
HAMBURG

Hunter Outcome Survey (HOS): patient registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

IERLAND

County Dublin
DUBLIN

Hunter Outcome Survey (HOS): patient registry
Children's Health Ireland @ Temple Street
National Centre for Inherited Metabolic Disorders

SPANJE

Asturias
OVIEDO

Gefinancierd door een IRDiRC-lidRenalTube: Database of patients with primary tubulopathies
Hospital Universitario Central de Asturias
Servicio de Pediatría

SPANJE

Cataluña
BARCELONA

Gefinancierd door een IRDiRC-lidEUROMAC: Registry of patients affected by McArdle Disease
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en patología neuromuscular y mitocondrial

USA

Georgia
ATLANTA

CMDIR: congenital muscular dystrophy international registry
Emory University
Woodruff Health Sciences Center

USA

Massachusetts
CAMBRIDGE

HOS : Hunter Outcome Survey
Shire Human Genetics Therapies, Inc.

VERENIGD KONINKRIJK

Tyne & Wear
NEWCASTLE UPON TYNE

Global FKRP registry (Global Fukutin-Related Protein defects registry) - Part of TREAT-NMD Alliance
Institute of Genetic Medicine - International Centre for Life
Global FKRP Registry

VERENIGD KONINKRIJK

Tyne & Wear
NEWCASTLE UPON TYNE

Global FKRP registry (Global Fukutin-Related Protein defects registry) - Part of TREAT-NMD Alliance
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine

VERENIGD KONINKRIJK

West Midlands
BIRMINGHAM

Gefinancierd door een IRDiRC-lidEIMD: European registry and network for intoxication type metabolic diseases
Birmingham Children's Hospital NHS Foundation Trust
Department of Clinical Inherited Metabolic Disorders

ZWEDEN

Region Skåne
LUND

Netwerken van registers en biobanken

NEDERLAND

Noord-Holland
AMSTERDAM

Gefinancierd door een IRDiRC-lidE-HOD - European network and registry for homocystinurias and methylation defects
  • Amsterdam UMC, locatie VUmc
  • Afdeling Interne Geneeskunde
  • VERENIGD KONINKRIJK

    Antrim and Newtownabbey
    NEWTOWNABBEY

    DUITSLAND

    Bayern
    MÜNCHEN

    BNE: BRAINNET EUROPE II (Network of European Brain and Tissue Banks for Clinical and Basic Neuroscience)
  • Zentrum für Neuropathologie und Prionforschung (ZNP)
  • Zentrum für Neuropathologie und Prionforschung der LMU München
  • FRANKRIJK

    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
  • DUITSLAND

    Baden-Württemberg
    HEIDELBERG

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