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Registries and Biobanks

GERMANY

Niedersachsen
GÖTTINGEN

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

GERMANY

Nordrhein-Westfalen
MÜNSTER

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

BELGIUM

ANTWERPEN
ANTWERPEN

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

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Belgian Neuromuscular Disease Registry
Sciensano
Epidemiology - Rare Diseases

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

ENRAH: European alternating hemiplegia and rare epilepsies registry in childhood
Secretariat Brussels, Postbus 10009
European Network for Research on Alternating Hemiplegia

CANADA

Alberta
CALGARY

Canadian Neuromuscular Disease Registry - part of the TREAT-NMD network
University of Calgary Health Science Centre
Department of Clinical Neurosciences

CYPRUS

Cyprus
NICOSIA

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Leukofrance database and biobank
Institution: Information not provided - FR

FRANCE

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Funded by an IRDiRC memberInternational 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

FRANCE

ILE-DE-FRANCE
GARCHES

French registry of neuromuscular diseases from reference centres
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Unité : Consultation Maladies Neuro Musculaires

FRANCE

ILE-DE-FRANCE
PARIS

European LeukoDataBase
CHU Paris - Hôpital Robert Debré
Centre de référence des leucodystrophies

GERMANY

Bayern
ERLANGEN

EEBB: European Epilepsy Brain Bank
Universitätsklinikum Erlangen - Kopfkliniken
Neuropathologisches Institut

GERMANY

Bayern
ERLANGEN

German epilepsy registry
Universitätsklinikum Erlangen - Kopfkliniken
Neuropathologisches Institut

GERMANY

Nordrhein-Westfalen
AACHEN

Brain-net - brain tissue bank Aachen
Universitätsklinikum Aachen
Institut für Neuropathologie

GERMANY

Nordrhein-Westfalen
BONN

Brain-Net - brain tissue bank Bonn (epilepsy, brain tumor)
Universitätsklinikum Bonn
Hirntumor-Referenzzentrum der DGNN

ITALY

VENETO
PADOVA

Funded by an IRDiRC memberRegional registry for neuromuscular disorders
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
Neuromuscular Laboratory

ITALY

VENETO
PADOVA

Neuromuscular Tissue Bank (NMTB) (EuroBioBank partner)
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
Neuromuscular Laboratory

NETHERLANDS

Gelderland
NIJMEGEN

Dutch Neuromuscular Database CRAMP: Computer Registry of All Myopathies and Polyneuropathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Neurologie

NETHERLANDS

Limburg
MAASTRICHT

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

NETHERLANDS

Limburg
MAASTRICHT

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

PORTUGAL

SUL
LISBOA

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

SLOVENIA

SLOVENIA
LJUBLJANA

Human tissue biobank of Neuromuscular diseases (EuroBioBank partner)
University Medical Center Ljubljana
Institute of Anatomy

SPAIN

Asturias
GIJÓN

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

REDAPED: Spanish registry of ataxias and degenerative spastic paraparesis
Hospital Universitario La Paz
Departamento de Neurología

SPAIN

Madrid
MADRID

REDAPED: Spanish registry of ataxias and degenerative spastic paraparesis
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

UK10K RARE FIND - Familial Intellectual Disability variant database
Addenbrooke's Hospital
Level 6, Addenbrooke's Treatment Centre

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

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

AUSTRALIA

Queensland
SOUTH BRISBANE

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

AUSTRIA

TIROL
INNSBRUCK

EMSA-SG: central patient registry of the European multiple system atrophy network
Medizinische Universität Innsbruck
Universitätsklinik für Neurologie

AUSTRIA

TIROL
INNSBRUCK

EMSA-SG: DNA bank of the European multiple system atrophy network
Medizinische Universität Innsbruck
Universitätsklinik für Neurologie

BELGIUM

ANTWERPEN
ANTWERPEN

Inherited Peripheral Neuropathies Mutation Database - IPNMD
University of Antwerp - UA
Inherited Peripheral Neuropathies Mutation Database

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Belgian patient database for Wilson disease - contributes to the EuroWilson registry (terminated)
Cliniques Universitaires UCL Saint-Luc
Service de gastro-entérologie pédiatrique

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

ENRAH: Belgian contribution to European registry for alternating hemiplegia in childhood
Secretariat Brussels, Postbus 10009
European Network for Research on Alternating Hemiplegia

BULGARIA

 South Central region
PLOVDIV

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

BULGARIA

 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

BULGARIA

 South-West region
SOFIA

National registry of patients with phenylketonuria - BG
University hospital of Obstetrics and Gynecology
Laboratory of molecular pathology - National Genetics Laboratory

CZECH REPUBLIC

South Moravia
BRNO

Autoimmune neuromuscular disease
Masaryk University
Department of Neurology

DENMARK

Hovedstaden
COPENHAGEN

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

DENMARK

Hovedstaden
HERLEV

Danish malignant hyperthermia registry - contributes to the European Malignant Hyperthermia Group (EMHG)
Herlev hospital - University of Copenhagen
Department of anaesthesiology - Danish Malignant Hyperthermia Centre - I 104 (LT)

DENMARK

Sjælland
COPENHAGEN

The PKU biobank as a national research source
Statens Serum Institut
Department of clinical biochemistry

FRANCE

AUVERGNE-RHONE-ALPES
BRON

EDMUS - NOMADMUS: French cohort of Devic's neuromyelitis optica and related neurological disorders
CHU de Lyon HCL - GH Est
Centre de Ressources Biologiques - NeuroBioTec

FRANCE

AUVERGNE-RHONE-ALPES
BRON

EDMUS: European Database for Multiple Sclerosis and other related diseases
CHU de Lyon HCL - GH Est
Service de Neurologie A - EDMUS Coordinating Center

FRANCE

AUVERGNE-RHONE-ALPES
BRON

French Williams syndrome cohort
CHU de Lyon HCL - GH Est
Centre d'Investigation Clinique

FRANCE

AUVERGNE-RHONE-ALPES
BRON

The International Consortium for the Research on Alternating Hemiplegia of Childhood
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
Service d'epileptologie clinique, des troubles du sommeil et de neurologie fonctionnelle de l'enfant

FRANCE

AUVERGNE-RHONE-ALPES
BRON

French Williams syndrome cohort
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
Service de néphrologie-rhumatologie-dermatologie pédiatriques - Néphrologie

FRANCE

HAUTS-DE-FRANCE
LOMME

French registry of tetrahydrobiopterin deficiencies
Hôpital Saint-Philibert
Laboratoire de biochimie

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Funded by an IRDiRC memberNational and European cohort on Imprinting Disorders and their metabolic consequences
CHU Paris-Sud - Hôpital de Bicêtre
Service d'Endocrinologie et Diabète de l'Enfant

FRANCE

ILE-DE-FRANCE
PARIS

EU-CHS: European central hypoventilation syndrome registry
CHU Paris - Hôpital Robert Debré
Equipe "Physiopathologie et neuroprotection des atteintes du cerveau en développement"

FRANCE

ILE-DE-FRANCE
PARIS

French central hypoventilation syndrome registry - will contribute to the European CHS registry
CHU Paris - Hôpital Robert Debré
Equipe "Physiopathologie et neuroprotection des atteintes du cerveau en développement"

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberNational and European cohort on Imprinting Disorders and their metabolic consequences
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Service Explorations fonctionnelles

FRANCE

ILE-DE-FRANCE
PARIS

French Cohorts in Sneddon syndrome and suspected Sneddon syndrome livedo
Groupe Hospitalier APHP.6 - Sorbonne Université - Hôpital Tenon
Service de dermatologie, médecine vasculaire et allergologie

FRANCE

ILE-DE-FRANCE
PARIS

UMD ATP7B (ATPase, Cu++ transporting, beta polypeptide) mutations database
Hôpital Necker-Enfants Malades
Biochimie métabolomique et protéomique

FRANCE

ILE-DE-FRANCE
PARIS

Motor Function Measure database (Neuromuscular Diseases)
Institut de Myologie - Hôpital Pitié-Salpêtrière
Unité clinique de pathologie neuromusculaire

FRANCE

ILE-DE-FRANCE
PARIS

DNA and cells bank for alternating hemiplegia of childhood
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Approches moléculaires et cellulaires de la réparation myélinique"

FRANCE

ILE-DE-FRANCE
PUTEAUX

FRANCE

NOUVELLE AQUITAINE
LIMOGES

French Register of Amyotrophic Lateral Sclerosis
Faculté de médecine de Limoges
NeuroEpidémiologie Tropicale

FRANCE

OCCITANIE
MONTPELLIER

French registry of rare hypersomnias
CHRU de Montpellier - Hôpital Gui de Chauliac
Unité des Troubles du sommeil et de l'éveil

GERMANY

Baden-Württemberg
HEIDELBERG

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

GERMANY

Baden-Württemberg
HEIDELBERG

Funded by an IRDiRC memberEIMD: 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

GERMANY

Baden-Württemberg
TÜBINGEN

EUROSCA-R: European patient registry on spinocerebellar ataxias
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik

GERMANY

Baden-Württemberg
TÜBINGEN

Niemann-Pick Type C Disease Gene Variation Database
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik

GERMANY

Baden-Württemberg
TÜBINGEN

GeNeMove: CP2 Central DNA-Bank
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik

GERMANY

Baden-Württemberg
TÜBINGEN

EUROSCA-R: European biobank on spinocerebellar ataxias
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik

GERMANY

Baden-Württemberg
ULM

ALS registry swabia
Universitäts- und Rehabilitationskliniken Ulm (RKU)
Klinik für Neurologie

GERMANY

Bayern
MÜNCHEN

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

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC memberTIRCON: NBIA (Neurodegeneration with Brain Iron Accumulation) patient registry
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

GERMANY

Bayern
MÜNCHEN

Biobank for patient with NBIA - subproject of TIRCON
Helmholtz Zentrum München
Institut für Humangenetik

GERMANY

Bayern
MÜNCHEN

Neurobiobank Munique
Zentrum für Neuropathologie und Prionforschung (ZNP)
Zentrum für Neuropathologie und Prionforschung der LMU München

GERMANY

Bayern
WÜRZBURG

Brain-Net - brain tissue bank Würzburg (Amyotrophic lateral sclerosis)
Institut für Pathologie der Universität Würzburg
Institut für Pathologie

GERMANY

Hamburg
HAMBURG

NCL-Registry: International neuronal ceroid lipofuscinoses patient registry
UKE - Universitätsklinikum Hamburg-Eppendorf
Arbeitsgruppe Degenerative Gehirnkrankheiten

GERMANY

Hamburg
HAMBURG

Funded by an IRDiRC memberMucopolysaccharidosis type 1 (MPS I) Registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

GERMANY

Hamburg
HAMBURG

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

GERMANY

Hessen
GIEßEN

Mutation Database Retina International: Norrie Disease Gene (NDP)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANY

Hessen
GIEßEN

Mutation Database Retina International: Chediak Higashi Syndrome (LYST)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANY

Hessen
MARBURG

GeNeMove: German database for wilson disease
Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
Klinik und Poliklinik für Neurologie

GERMANY

Nordrhein-Westfalen
AACHEN

Funded by an IRDiRC memberEUROFA - EFACT: European Friedreich Ataxia Registry
Universitätsklinikum Aachen
Klinik für Neurologie

GERMANY

Nordrhein-Westfalen
AACHEN

EUROFA - EFACT: European Friedreich Ataxia Biobank
Universitätsklinikum Aachen
Klinik für Neurologie

GERMANY

Nordrhein-Westfalen
BOCHUM

ALS registry Nordrhein-Westfalen
Berufsgenossenschaftliches Universitätsklinikum Bergmannsheil GmbH
ALS Register Nordrhein-Westfalen

GERMANY

Nordrhein-Westfalen
BONN

EUROSCA-R: European patient registry on spinocerebellar ataxias
Universitätsklinikum Bonn
Klinik und Poliklinik für Neurologie

GERMANY

Nordrhein-Westfalen
BONN

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

GERMANY

Nordrhein-Westfalen
BONN

EUROSCA-R: European biobank on spinocerebellar ataxias
Universitätsklinikum Bonn
Klinik und Poliklinik für Neurologie

GERMANY

Nordrhein-Westfalen
MÜNSTER

GERMANY

Rheinland-Pfalz
LUDWIGSHAFEN

ALS registry Rheinland-Pfalz
Klinikum der Stadt Ludwigshafen gGmbH
Rheinland-Pfälzisches ALS-Register

GREECE

ATTIKI
ATHENS

PATIENT REGISTRY AND DNA BIOBANK ON NEUROGENETIC DISORDERS
University of Athens - Medical school
Neurogenetics Unit

HUNGARY

Dél-Dunántúl
PECS

Friedreich ataxia biobank
Clinical Center - University of Pécs
Department of Medical Genetics

IRELAND

County Dublin
DUBLIN

Hunter Outcome Survey (HOS): patient registry
Children's University Hospital
National Centre for Inherited Metabolic Disorders

IRELAND

County Dublin
DUBLIN

Funded by an IRDiRC memberIrish Registry for homocystinurias and methylation defects - contributes to E-HOD
Children's University Hospital
National Centre for Inherited Metabolic Disorders

IRELAND

County Dublin
DUBLIN

Irish registry of amyotrophic lateral sclerosis and motor neurone disease - contributes to Euro-MOTOR
Trinity College Dublin
Department of Neurology - Trinity Biomedical Sciences Institute

ITALY

CAMPANIA
NAPOLI

Bank for the Diagnosis and Research on neuromuscular Disorders (NHMGB) (EuroBioBank partner)
AOU Seconda Università degli Studi di Napoli - Centro storico
Servizio di Cardiomiologia e Genetica Medica

ITALY

LIGURIA
GENOVA

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

ITALY

LOMBARDIA
BOSISIO PARINI

ITALY

LOMBARDIA
BOSISIO PARINI

IBAHC: Italian registry for alternating hemiplegia of childhood
IRCCS "E. Medea"
Laboratorio di Biologia Molecolare

ITALY

LOMBARDIA
MILANO

Human DNA bank of patients affected by Parkinson disease and parkinsonisms
ASST Nord Milano
Parkinson Institute-Centro parkinson

ITALY

LOMBARDIA
MILANO

DNA cell lines and nerve muscle cardiac tissues bank (EuroBioBank partner)
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
U.O. Malattie Neuromuscolari

ITALY

LOMBARDIA
MILANO

Movement Disorders Biobank (EuroBioBank partner)
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare

ITALY

LOMBARDIA
SAN DONATO MILANESE

Italian registry of muscular channelopathy
IRCCS Policlinico San Donato
U.O. di Neurologia - Centro per lo Studio delle Malattie Neuromuscolari

ITALY

PIEMONTE
TORINO

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

SICILIA
CATANIA

EUROWILSON: Registry and network to improve the management of Wilson Disease
Presidio Ospedaliero Garibaldi-Nesima
Servizio di Genetica Medica - Centro di Riferimento per la Prevenzione, la Diagnosi e la Cura delle Malattie Genetiche Rare

NETHERLANDS

Limburg
MAASTRICHT

Biobank Myotonic Dystrophy type 1 (DNA, serum, fibroblasts and pericytes)
AZM - Academisch Ziekenhuis Maastricht
Afdeling Neurologie

NETHERLANDS

Limburg
MAASTRICHT

Biobank Myotonic Dystrophy type 1 (DNA, serum, fibroblasts and pericytes)
AZM - Academisch Ziekenhuis Maastricht
Biobank Klinische Genetica Maastricht

NETHERLANDS

Noord-Holland
AMSTERDAM

Dutch patient registry for Niemann-Pick Disease Type C
Amsterdam UMC, locatie AMC
Afdeling Endocrinologie en Metabolisme

NETHERLANDS

Noord-Holland
AMSTERDAM

X-ALD: X-linked adrenoleukodystrophy database
Amsterdam UMC, locatie AMC
Laboratorium Genetische Metabole Ziekten

NETHERLANDS

Noord-Holland
AMSTERDAM

NETHERLANDS

Noord-Holland
NAARDEN

The international Mps I registry
Genzyme Europe B.V.

NETHERLANDS

Noord-Holland
NAARDEN

NETHERLANDS

Utrecht
UTRECHT

PAN research: Prospective amyotrophic lateral sclerosis (ALS) study Netherlands
UMC Utrecht - Universitair Medisch Centrum Utrecht
Afdeling Neurologie

NETHERLANDS

Zuid-Holland
LEIDEN

Leiden Narcolepsy Biobank (DNA, serum, CSF and peripheral blood cells)
LUMC - Leids Universitair Medisch Centrum
Afdeling Neurologie

NETHERLANDS

Zuid-Holland
ROTTERDAM

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

NORWAY

Nord-Norge
TROMSØ

HUE-MAN patient registry on alpha mannosidosis
UNN - Universitetssykehuset Nord-Norge
Department of medical genetics

NORWAY

Nord-Norge
TROMSØ

HUE-MAN mutation registry on alpha mannosidosis
UNN - Universitetssykehuset Nord-Norge
Department of medical genetics

NORWAY

Nord-Norge
TROMSØ

HUE-MAN biobank on alpha mannosidosis
UNN - Universitetssykehuset Nord-Norge
Department of medical genetics

POLAND

Warszawa
WARSAW

Polish Registry of Patients with Neuromuscular Diseases contributes to the TREAT-NMD network
Warszawski Uniwersytet Medyczny - Medical University of Warsaw
Klinika Neurologii - Department of Neurology

PORTUGAL

NORTE
PORTO

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

SPAIN

Castilla - León
SALAMANCA

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

SPAIN

Cataluña
BARCELONA

NMD-ES: Amyotrophic Lateral Sclerosis Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología

SPAIN

Cataluña
BARCELONA

NMD-ES: Inflammatory Neuropathies Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología

SWEDEN

Skane
LUND

LYSTbase: Mutation registry for Chediak-Higashi syndrome (previously known as CHS1base)
Lund University
Department of Experimental Medical Science

SWITZERLAND

Suisse Alémanique
ZÜRICH

BH4: international mutation registry of tetrahydrobiopterin deficiency
Universitäts - Kinderspital Zürich - Eleonorenstiftung
University Children's Hospital

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

European Prader-Willi syndrome database
Developmental Psychiatry - University of Cambridge
Learning Disabilities Research Group

UNITED KINGDOM

Greater London
LONDON

BPOLD: British Paediatric Orphan Lung Disease Registry
GOSH NHS Foundatin Trust
Respiratory Medicine Group

UNITED KINGDOM

Greater London
LONDON

Batten Disease Neuronal Ceroid Lipofuscinosis (NCL) Patient Registry
UCL University College London
MRC Laboratory for Molecular Cell Biology

UNITED KINGDOM

Greater Manchester
MANCHESTER

Registry for Patients with Niemann-Pick Type C Disease
St Mary's Hospital
Manchester Cente for Genomic Medicine

UNITED KINGDOM

Lothian
EDINBURGH

BPOLD: British Paediatric Orphan Lung Disease Registry
Royal Hospital for Sick Children
Department of Respiratory, Sleep & General Medicine

UNITED KINGDOM

South Yorkshire
SHEFFIELD

EURO WILSON: Creating a European Clinical Database and designing randomised controlled clinical trials for Wilson disease - UK
The Sheffield Children's Hospital
Sheffield Children's Hospital (Division of Child Health)

UNITED KINGDOM

Staffordshire
STOKE ON TRENT

UK Registry for Central Hypoventilation Syndrome (CHS) - part of the European CHS
University Hospital of North Staffordshire - Cheethams Children's Centre
UK Central Hypoventilation Syndrome Registry

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

UK Myotonic dystrophy type I patient registry (part of the TREAT-NMD network)
Newcastle upon Tyne Hospitals NHS Trust
Institute of Genetic Medicine

UNITED KINGDOM

Tyne & Wear
NEWCASTLE-UPON-TYNE

United Kingdom Primary Sjogren's Syndrome Registry
Faculty of Medical Sciences Newcastle University
Musculoskeletal Research Group Institute of Cellular Medicine

UNITED KINGDOM

West Midlands
BIRMINGHAM

Funded by an IRDiRC memberEIMD: European registry and network for intoxication type metabolic diseases
Birmingham Children's Hospital NHS Foundation Trust
Department of Clinical Inherited Metabolic Disorders

UNITED KINGDOM

West Midlands
BIRMINGHAM

Funded by an IRDiRC memberInternational Niemann-Pick Disease Registry
Queen Elizabeth Hospital
Inherited Metabolic Disorders

UNITED STATES

California
SAN FRANCISCO

Sjogren's International Collaborative Clinical Alliance registry
University of California
Department of Orofacial Sciences

UNITED STATES

Massachusetts
CAMBRIDGE

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

UNITED STATES

Pennsylvania
EXTON

FARA: International Friedreich Ataxia Research Alliance registry
FARA - Friedreichs Ataxia Research Alliance

AUSTRALIA

Victoria
MELBOURNE

Myeloma and Related Diseases Registry (MRDR)
Monash University
Department of Epidemiology & Preventive Medicine

AUSTRIA

OBERÖSTERREICH
LINZ

Register für histiozytäre Erkrankungen
Ordensklinikum Linz - Elisabethinen
Hämatologie mit Stammzelltransplantation, Hämostaseologie und medizinische Onkologie

AUSTRIA

STEIERMARK
GRAZ

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

BELGIUM

ANTWERPEN
ANTWERPEN

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

BELGIUM

HAINAUT
GOSSELIES

Hainaut and Namur registry of congenital anomalies - contributes to the EUROCAT network
Institut de Pathologie et de Génétique
Centre de Génétique Humaine - IPG

CANADA

Colombie-Britannique
VANCOUVER

Glomerulonephritis Registry
Centre for Health Evaluation and Outcome Sciences (CHEOS)
Department of Nephrology

DENMARK

Syddanmark
ODENSE

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

FINLAND

Finland
HELSINKI

Register of Congenital Malformations, Epämuodostumarekisteri
National Institute for Health and Welfare
Terveyden ja hyvinvoinnin laitos

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

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

FRANCE

AUVERGNE-RHONE-ALPES
BRON

EDMUS - NOMADMUS: French biobank of Devic's neuromyelitis optica and related neurological disorders
CHU de Lyon HCL - GH Est
Centre de Ressources Biologiques - NeuroBioTec

FRANCE

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

FRANCE

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

FRANCE

BRETAGNE
RENNES

French registry of Iron overload genetic rare diseases, non-related to the HFE gene
CHU de Rennes - Hôpital Pontchaillou
Service des maladies du foie

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
REIMS

CRB TOXOPLASMA: biological resources centre - Toxoplasma
UFR de Médecine de Reims IFR 53
Protozooses transmises par l'alimentation (Cryptosporidiose, Giardiose et Toxoplasmose)

FRANCE

GRAND-EST
STRASBOURG

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

FRANCE

GRAND-EST
STRASBOURG

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

FRANCE

ILE-DE-FRANCE
CRÉTEIL

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

FRANCE

ILE-DE-FRANCE
PARIS

Paris registry of congenital anomalies - contributes to the EUROCAT network
CHU Paris Centre - Maternité Port Royal
Equipe EPOPé

FRANCE

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

FRANCE

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)

FRANCE

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

GERMANY

Baden-Württemberg
TÜBINGEN

MEFOPA: registry for patients with rare Mendelian forms of Parkinson's Disease
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen

GERMANY

Baden-Württemberg
TÜBINGEN

MEFOPA-biobank for patients with rare Mendelian forms of Parkinson's Disease
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen

GERMANY

Baden-Württemberg
ULM

Enroll-HD Register
Universitäts- und Rehabilitationskliniken Ulm (RKU)
Zentrale Koordination des Europäischen HD Netzwerks

GERMANY

Baden-Württemberg
ULM

Enroll-HD Biobank
Universitäts- und Rehabilitationskliniken Ulm (RKU)
Zentrale Koordination des Europäischen HD Netzwerks

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC memberGerman CMT-patient registry germany - part of the TREAT-NMD network
Friedrich-Baur-Institut
TREAT-NMD-Patientenregister

GERMANY

Bayern
MÜNCHEN

EHDN: neuroacanthocytosis patient registry
LMU Klinikum der Universität München - Campus Großhadern
Arbeitsgruppe Kognitive Neurologie - Neurologische Klinik und Poliklinik

GERMANY

Hessen
GIEßEN

Mutation Database Retina International: McKusick-Kaufman Gene (MKKS)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANY

Hessen
GIEßEN

Mutation Database Retina International: CLN3 Gene
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANY

Hessen
GIEßEN

Mutation Database Retina International: Palmitoyl-Protein Thioesterase Gene (PPT CLN1) Gene
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANY

Niedersachsen
GÖTTINGEN

German TSE research platform: establishment of a national CJD sample bank
Universitätsmedizin Göttingen
Prionforschungsgruppe

GERMANY

Nordrhein-Westfalen
AACHEN

Funded by an IRDiRC memberCMT- Net: National biobank
Universitätsklinikum Aachen
Institut für Neuropathologie

GERMANY

Nordrhein-Westfalen
BONN

European registry of sporadic degenerative ataxia with adult onset
Universitätsklinikum Bonn
Klinik und Poliklinik für Neurologie

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Neuromyelitis optica patient registry
Universitätsklinikum Düsseldorf
Neuromyelitis optica Studiengruppe (NEMOS)

GERMANY

Rheinland-Pfalz
MAINZ

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

GERMANY

Sachsen-Anhalt
MAGDEBURG

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

GERMANY

Schleswig-Holstein
LÜBECK

Funded by an IRDiRC memberDYSTRACT: German Dystonia Registry
Universität Lübeck
Institut für Neurogenetik

HUNGARY

Dél-Dunántúl
PECS

Huntington disease biobank
Clinical Center - University of Pécs
Department of Medical Genetics

HUNGARY

Dél-Dunántúl
PECS

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

HUNGARY

Dél-Dunántúl
PECS

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

HUNGARY

Dél-Dunántúl
PECS

Spinocerebellar ataxia biobank
Clinical Center - University of Pécs
Department of Medical Genetics

HUNGARY

Dél-Dunántúl
PECS

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

HUNGARY

Közép-Magyarország
BUDAPEST

Nemzeti NF Regiszter
Nemzeti NF Regiszter
NF Magyarorszag

IRELAND

County Cork
CORK

IRELAND

County Dublin
DUBLIN

Dublin registry of congenital anomalies - contributes to the EUROCAT network
Dr. Steeven's Hospital
HSE Registry of Congenital Anomalies (East)

IRELAND

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

ITALY

CAMPANIA
BENEVENTO

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

ITALY

EMILIA ROMAGNA
REGGIO EMILIA

Ring14 Clinical database
Associazione Internazionale Ring 14 ONLUS

ITALY

LAZIO
ROMA

Italian registry of Creutzfeldt-Jakob disease and correlated syndromes
ISS - Istituto Superiore di Sanità
Dipartimento di Biologia Cellulare e Neuroscienze

ITALY

PIEMONTE
NOVARA

BIODEF-International Database of tetrahydrobiopterin Deficiencies
Università degli Studi del Piemonte Orientale
Laboratorio di Patologia Genetica

ITALY

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

ITALY

TOSCANA
PISA

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

ITALY

TOSCANA
SIENA

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

ITALY

TOSCANA
SIENA

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

ITALY

VENETO
PADOVA

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

ITALY

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

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

Groningen
GRONINGEN

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

NETHERLANDS

Noord-Holland
AMSTERDAM

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

NETHERLANDS

Zuid-Holland
LEIDEN

LUMC Biobank RVCL-S (DNA/peripheral blood cells/plasma/serum/tissue/CSF)
LUMC - Leids Universitair Medisch Centrum
Afdeling Neurologie

POLAND

Poznan
POZNAN

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

PORTUGAL

NORTE
PORTO

Registo Português do Síndrome de Rett
Hospital de Santo António - Centro Hospitalar do Porto
Serviço de Pediatria Médica

PORTUGAL

SUL
LISBOA

RENAC - Registo Nacional de Anomalias Congénitas (contribui para a rede EUROCAT)
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Departamento de Epidemiologia

SPAIN

Asturias
OVIEDO

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

SPAIN

Cataluña
BARCELONA

NMD-ES: Hereditary Neuropathies Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología

SPAIN

Cataluña
BELLATERRA

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

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberTREAT-CMT: Database of CMT mutations in Spanish population
Centro de Investigación Príncipe Felipe (CIPF)
Laboratorio de Genética y Genómica de Enfermedades Neuromusculares

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberSpanish patient registry of transmissible spongiform encephalopathies
Centro Nacional de Epidemiología (CNE)
Area de Epidemiología Aplicada

SPAIN

País Vasco
VITORIA-GASTEIZ

RACAV: Registry of congenital anomalies of the Basque Country (Spain) - contributes to the EUROCAT network
Gobierno Vasco - Departamento de Sanidad y Consumo
Gobierno Vasco. Departamento de Salud

SWEDEN

Skane
LUND

MYO5Abase: Mutation registry for Griscelli syndrome, type 1 (GS1)
Lund University
Department of Experimental Medical Science

SWEDEN

Skane
LUND

SWEDEN

Skane
LUND

STX11base: Mutation registry for Familial haemophagocytic lymphohistiocytosis 4 (FHL4)
Lund University
Department of Experimental Medical Science

SWEDEN

Skane
LUND

UNC13Dbase: Mutation registry for Familial hemophagocytic lymphohistiocytosis 3
Lund University
Department of Experimental Medical Science

SWEDEN

Skane
LUND

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

SWEDEN

Skane
LUND

TLR3base: Mutation registry for Influenza-associated encephalopathy
Lund University
Department of Experimental Medical Science

SWEDEN

Skane
LUND

UNC93B1base: Mutation registry for UNC93B deficiency (Herpes simplex encephalitis)
Lund University
Department of Experimental Medical Science

SWEDEN

Stockholms läns landsting
HUDDINGE

Swedish and Finnish registry of CADASIL patients
Karolinska Institutet - Huddinge
Department of Neurobiology, Care Sciences and Society

SWITZERLAND

Suisse Romande
LAUSANNE

Swiss registries for Interstitial and Orphan Lung Diseases (SIOLD Registries)
Centre Hospitalier Universitaire Vaudois CHUV
Swiss registries for Interstitial and Orphan Lung Diseases

SWITZERLAND

Suisse Romande
LAUSANNE

UNITED KINGDOM

East Sussex
BRIGHTON

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

UNITED KINGDOM

Gwent
CARDIFF

UNITED KINGDOM

Gwent
CARDIFF

UNITED KINGDOM

Lothian
EDINBURGH

Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database: ACVRL1 and ENG
Western General Hospital
Molecular Genetics Laboratory (part of the South East Scotland Genetics Service)

UNITED KINGDOM

Merseyside
LIVERPOOL

United Kingdom neuromyelitis optica registry
The Walton Centre NHS Foundation Trust
The Walton Centre for Neurology and Neurosurgery

UNITED KINGDOM

Oxfordshire
OXFORD

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

UNITED KINGDOM

South Yorkshire
SHEFFIELD

EHND: registry of juvenile Huntington's disease
The Sheffield Children's Hospital
Sheffield Clinical Genetics Department (part of the Sheffield Clinical Genetics Service)

UNITED KINGDOM

Tayside
EDINBURGH

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

UNITED KINGDOM

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

UNITED KINGDOM

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
Institute of Genetic Medicine

UNITED STATES

Georgia
ATLANTA

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

CANADA

Ontario
BRAMPTON

Fragile X Patient Registry
FXRFC
Fragile X Research Foundation of Canada

CANADA

Québec
MONTRÉAL

Canadian Inflammatory Myopathy Study (CIMS)
Hôpital général juif - Jewish General Hospital
Rheumatology Department, Suite A 725

CANADA

Québec
MONTRÉAL

Canadian Inflammatory Myopathy Study (CIMS)
Montreal Neurological Institute and Hospital
Clinical Research Unit (CRU)

CROATIA

CROATIA
ZAGREB

Registry for neuromuscular disease
University Hospital Centre Zagreb
Department of Child Neurology

CZECH REPUBLIC

South Moravia
BRNO

Spinal muscular atrophy patient registry in the Czech Republic - part of the TREAT-NMD network
University hospital Brno
Institute of Biostatistics and Analyses

FRANCE

GRAND-EST
STRASBOURG

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

FRANCE

ILE-DE-FRANCE
PARIS

French auto-immunity and Rituximab (AIR) registry: prospective study of patients treated with Rituximab
CHU Paris Centre - Hôpital Cochin, Site Cochin
Unité fonctionnelle de Médecine interne et centre de référence maladies rares

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberNational cohort on periodic paralysis : clinical, genetic and medico-economic studies involving m-health monitoring tools
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Unité Neurogénétique et métabolisme

FRANCE

ILE-DE-FRANCE
PARIS

French registry for macrophagic myofasciitis
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Département de Médecine Interne et Immunologie Clinique (DMIIC)

FRANCE

ILE-DE-FRANCE
PARIS

CoF-AT study: a French cohort on ataxia-telangiectasia
CLCC Institut Curie
Cancer et génome: bioinformatique, biostatistiques et épidémiologie d'un système complexe

FRANCE

ILE-DE-FRANCE
PARIS

CoF-AT study: a French cohort on ataxia-telangiectasia
CLCC Institut Curie
Service de Génétique

FRANCE

ILE-DE-FRANCE
PARIS

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

FRANCE

NORMANDIE
ROUEN

UMD-SMN1 France
Faculté de médecine et de pharmacie de Rouen
Laboratoire de génétique moléculaire

GERMANY

Baden-Württemberg
TÜBINGEN

Early Onset Ataxias
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen

GERMANY

Hessen
FRANKFURT AM MAIN

Ataxia-Telangiectasia patient registry - contributes to the ESID Database
Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
Pädiatrische Allergologie, Pneumologie und Mukoviszidose

GERMANY

Hessen
MARBURG

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

HUNGARY

Dél-Dunántúl
PECS

Epilepsy biobank
Clinical Center - University of Pécs
Department of Medical Genetics

HUNGARY

Közép-Magyarország
BUDAPEST

TREAT-NMD SMA adatbázis
National Institute of Environmental Health
Department of Molecular Genetics and Diagnostics

IRELAND

County Dublin
DUBLIN

Irish Dystonia DNA Biobank
St. Vincent's University Hospital
Department of Neurology

ITALY

CAMPANIA
NAPOLI

Naples Human Mutation Gene Biobank
AOU Seconda Università degli Studi di Napoli - Centro storico
Servizio di Cardiomiologia e Genetica Medica

ITALY

LAZIO
ROMA

RIAT: Ataxia teleangiectasia Italian registry
A.O. S. Andrea
Servizio di Genetica Medica

ITALY

LAZIO
ROMA

V-RIAT: variant Ataxia telangiectasia Italian registry
A.O. S. Andrea
Servizio di Genetica Medica

ITALY

LAZIO
ROMA

Duchenne and Becker muscular dystrophy and spinal muscular dystrophy patient registries in Italy - contributes to the TREAT-NMD network
Parent Project - ONLUS
Parent Project - Genitori contro la Distrofia Muscolare di Duchenne & Becker ONLUS

ITALY

LOMBARDIA
MILANO

RAM-NET: Italian registry of patients with neuromuscular diseases - contributes to Treat-NMD european network
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Clinica Neuropatie Degenerative Centrali e Periferiche

ITALY

SICILIA
MESSINA

Funded by an IRDiRC memberTransthyretin amyloid neuropathy (TTR-FAP) italian registry
A.O.U. Policlinico "G. Martino"
Centro Clinico Nemo Sud - Centro ad alta specializzazione per le malattie neuromuscolari

ITALY

TOSCANA
FIRENZE

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

NETHERLANDS

Groningen
GRONINGEN

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

NETHERLANDS

Zuid-Holland
ROTTERDAM

Biobank Frontotemporal Dementia Erasmus MC (DNA/RNA/plasma/serum/tissue)
Erasmus MC - Erasmus Medisch Centrum
Alzheimercentrum Erasmus MC

SPAIN

Cataluña
BARCELONA

Spanish patient registry for spinal muscular atrophy - part of the TREAT-NMD network
Hospital Universitari Vall d'Hebron
Laboratorio de Genética

SPAIN

Cataluña
BARCELONA

NMD-ES: Myopathies and Muscular Dystrophies Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología

SPAIN

Cataluña
BARCELONA

NMD-ES: Congenital Myasthenic Syndrome Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología

SWEDEN

Skane
LUND

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

SWEDEN

Skane
LUND

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

SWEDEN

Västerbottens läns landsting
UMEÅ

Svenska FAP-registret
University Hospital of Umeå
Department of Medicine

SWITZERLAND

Suisse Alémanique
BASEL

Swiss Registry for Neuromuscular Disorders
Universitäts-Kinderspital beider Basel UKBB
Pädiatrisches Neuromuskuläres Zentrum Basel

SWITZERLAND

Suisse Alémanique
BERN

Swiss Registry for Neuromuscular Disorders
Institute of Social and Preventive Medicine (ISPM)

TURKEY

TURKEY
ANKARA

Duchenne and Becker muscular dystrophy and spinal muscular dystrophy patient registries in Turkey - contributes to the TREAT-NMD network
Hacettepe University Faculty of Medicine
Department of physical therapy and rehabilitation

UKRAINE

UKRAINE
KHARKIV

Spinal muscular atrophy patient registry in Ukraine - part of the TREAT-NMD network
Academy of medical science of Ukraine
Institute of Neurology, Psychiatry and Narcology

UNITED KINGDOM

Surrey
SUTTON

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

UK and Ireland Spinal muscular atrophy (SMA) patient registry (part of the TREAT-NMD network)
Newcastle upon Tyne Hospitals NHS Trust
Institute of Genetic Medicine

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

EUNEFRON: registry of the European network for the study of orphan nephropathies
Cliniques Universitaires UCL Saint-Luc
Laboratory of Nephrology

FRANCE

BRETAGNE
RENNES

French cohort of rhombencephalosynapsis
CHU de Rennes - Hôpital Sud
Service de génétique clinique

FRANCE

BRETAGNE
RENNES

French biological collection of rhombencephalosynapsis
CHU de Rennes - Hôpital Sud
Service de génétique clinique

FRANCE

ILE-DE-FRANCE
CRÉTEIL

FRANCE

ILE-DE-FRANCE
PARIS

French cohort in genetic microcephalies
CHU Paris - Hôpital Robert Debré
Unité de Génétique clinique

FRANCE

ILE-DE-FRANCE
PARIS

FRANCE

OCCITANIE
MONTPELLIER

French cohort of focal dystonia famillies
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

GERMANY

Bayern
MÜNCHEN

GERMANY

Bayern
MÜNCHEN

German DM registry: Patient registry for myotonic dystrophy (DM)
Friedrich-Baur-Institut
TREAT-NMD-Patientenregister

GERMANY

Hessen
GIEßEN

'Mutation Database Retina International: Centrosomal Protein; 290 kDa (CEP290)'
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANY

Nordrhein-Westfalen
MÜNSTER

Nephronophthisis registry for patients in germany, austria and switzerland
KfH Kuratorium für Dialyse und Nierentransplantation e.V.
KfH-Nierenzentrum für Kinder und Jugendliche

GERMANY

Nordrhein-Westfalen
MÜNSTER

Nephronophthisis registry for patients in germany, austria and switzerland
Universitätsklinikum Münster
Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberTelethon-UILDM registry CMD (Congenital Muscular Dystrophy) - contributes to european Treat-NMD network
Policlinico Universitario "A. Gemelli"
U.O.C. Neuropsichiatria Infantile

ITALY

LOMBARDIA
MILANO

INNCB MG Registry
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
U.O. Neurologia IV - Malattie Neuromuscolari e Neuroimmunologia

ITALY

LOMBARDIA
SAN DONATO MILANESE

Italian registry of myotonic dystrophies
IRCCS Policlinico San Donato
U.O. di Neurologia - Centro per lo Studio delle Malattie Neuromuscolari

SPAIN

Cataluña
BARCELONA

NMD-ES: Inclusion Body Myositis Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología

SPAIN

Cataluña
BARCELONA

NMD-ES: Myasthenia Gravis Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología

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

UNITED KINGDOM

Greater London
LONDON

UK and Ireland Juvenile Dermatomyositis Cohort Biomarker Study and Repository
GOSH NHS Foundatin Trust
Juvenile Dermatomyositis Research Centre

UNITED KINGDOM

Greater London
LONDON

UNITED KINGDOM

Greater London
LONDON

UK and Ireland Juvenile Dermatomyositis Cohort Biomarker Study and Repository
The Institute of Child Health & The Division of Medicine, UCL
Arthritis Research UK Centre for Adolescent Rheumatology

UNITED KINGDOM

Merseyside
LIVERPOOL

UK and Ireland Juvenile Dermatomyositis Cohort Biomarker Study and Repository
Alder Hey Children's Hospital
Department of Rheumatology

UNITED KINGDOM

South Glamorgan
CARDIFF

Myotonic dystrophy patient registry in United Kingdom - part of the TREAT-NMD network
University Hospital of Wales
Institute of Medical Genetics

AUSTRALIA

New South Wales
MARRICKVILLE

DuchenneConnect Australia patient registry
Save Our Sons Duchenne Foundation

CZECH REPUBLIC

South Moravia
BRNO

FRANCE

ILE-DE-FRANCE
PARIS

Duchenne and Becker muscular dystrophy patient registry in France - part of the TREAT-NMD network
CHU Paris Centre - Hôpital Cochin, Site Cochin
Service de génétique et biologie moléculaires

FRANCE

ILE-DE-FRANCE
PARIS

Registry of observed trichinellosis cases in France yearly
CHU Paris Centre - Hôpital Cochin, Site Cochin
Laboratoire de parasitologie-mycologie

FRANCE

ILE-DE-FRANCE
PARIS

French pediatric registry of rituximab treated patients affected by severe systemic diseases - contributes to the French AIR registry
Hôpital Necker-Enfants Malades
Service d'Immuno-hématologie pédiatrique - Rhumatologie

FRANCE

ILE-DE-FRANCE
PARIS

Laminopathies and emerinopathies patient registry
Institut de Myologie - Hôpital Pitié-Salpêtrière
Équipe "Génétique, Physiopathologie & approches thérapeutiques des maladies du muscle"

FRANCE

OCCITANIE
MONTPELLIER

Duchenne and Becker muscular dystrophy patient registry in France - part of the TREAT-NMD network
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

FRANCE

PAYS DE LA LOIRE
ANGERS

eOPA1: mutations registry of OPA1 gene (Optic atrophy 1)
CHU d'Angers
UF de Génétique Moléculaire

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

UMD-DYSF, a locus-specific database for the compilation and interactive analysis of mutations in the Dysferlin gene.
Faculté de Médecine de la Timone
Centre d'enseignement et de recherche en génétique médicale - INSERM UMR S910

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Funded by an IRDiRC memberFrench National FSHD Registry
Faculté de Médecine de la Timone
Centre d'enseignement et de recherche en génétique médicale - INSERM UMR S910

GERMANY

Bayern
MÜNCHEN

German FSHD registry: Patient registry for Facioscapulohumeral dystrophy (FSHD)
Friedrich-Baur-Institut
TREAT-NMD-Patientenregister

HUNGARY

Közép-Magyarország
BUDAPEST

DMD registry - Hungary - contributes to the TREAT-NMD network
National Institute of Environmental Health
Department of Molecular Genetics and Diagnostics

ITALY

EMILIA ROMAGNA
MODENA

ITALY

LAZIO
ROMA

DMD / BMD Italy Patient Registry
Parent Project - ONLUS

ITALY

LOMBARDIA
MILANO

Telethon-UILDM registry LGMD (Limb Girdle Muscular Dystrophy) - contributes to european Treat-NMD network
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Dipartimento di Scienze Neurologiche

NETHERLANDS

Gelderland
NIJMEGEN

FSHD registry
Radboudumc - Radboud universitair medisch centrum
Afdeling Neurologie

NETHERLANDS

Zuid-Holland
LEIDEN

PORTUGAL

NORTE
PORTO

Duchenne and Becker muscular dystrophy patient registry in Portugal - contributes to the TREAT-NMD network
CGMJM - Centro de Genética Médica Jacinto Magalhães
Centro de Genética Médica Jacinto Magalhães

SPAIN

Cataluña
BARCELONA

The Connexin-deafness mutations database
Centro de Regulación Genómica
Programa Genes y Enfermedad

SPAIN

Cataluña
BARCELONA

NMD-ES: Mitochondrial Diseases Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

NMD-ES: Mitochondrial Diseases Registry
Hospital Sant Joan de Déu Barcelona
Unidad de Enfermedades Metabólicas Congénitas

UNITED KINGDOM

Greater London
LONDON

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

UK facioscapulohumeral muscular dystrophy patient registry (part of the TREAT-NMD network)
Newcastle University
John Walton Muscular Dystrophy Research Centre, Institute for Genetic Medicine

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

The MTM and CNM Registry - The Myotubular and Centronuclear Myopathy Patient Registry
Newcastle upon Tyne Hospitals NHS Trust
Institute of Genetic Medicine

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

A Clinical Outcome Study for Dysferlinopathy: An International Natural History Study of Dysferlinopathy - UK
Newcastle upon Tyne Hospitals NHS Trust
Institute of Genetic Medicine

UNITED STATES

Washington
SEATTLE

FRANCE

ILE-DE-FRANCE
PARIS

UMD DMD (Dystrophin) mutations database
CHU Paris Centre - Hôpital Cochin, Site Cochin
Service de génétique et biologie moléculaires

FRANCE

ILE-DE-FRANCE
PARIS

Registre de mutations d'UMD EMD (Emerin)
Institut de Myologie - Hôpital Pitié-Salpêtrière
Centre de Recherche en Myologie

FRANCE

ILE-DE-FRANCE
PARIS

French certified registry of glycogen storage disease type 2
Institut de Myologie - Hôpital Pitié-Salpêtrière
Unité clinique de pathologie neuromusculaire

FRANCE

OCCITANIE
MONTPELLIER

UMD DMD (Dystrophin) mutations database
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

GERMANY

Hamburg
HAMBURG

Funded by an IRDiRC memberPompe Disease Registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberBank of cells, tissues and DNA from patients with neuromuscular diseases (EuroBioBank partner)
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
Laboratorio di Biologia della Cellula Muscolare

NETHERLANDS

Noord-Holland
NAARDEN

The intenational Pompe registry
Genzyme Europe B.V.

SPAIN

Cataluña
BARCELONA

Spanish registry of Duchenne muscular dystrophy - part of the TREAT-NMD network
Hospital de la Santa Creu i Sant Pau
Servicio de Genética

SPAIN

Cataluña
BARCELONA

NMD-ES: Pompe Disease Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología

SPAIN

Comunidad Valenciana
VALENCIA

Spanish registry of Duchenne muscular dystrophy - part of the TREAT-NMD network
Hospital Universitario y Politécnico La Fe
Unidad de Genética

SPAIN

Madrid
MADRID

Spanish registry of patients with McArdle disease
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en Enfermedades Raras, Mitocondriales y Neuromusculares

SPAIN

Madrid
VILLAVICIOSA DE ODÓN

Spanish registry of patients with McArdle disease
Universidad Europea de Madrid. Facultad de Ciencias de la Salud
Laboratorio de Fisiología del Ejercicio

SWEDEN

Skane
LUND

TAZbase: Mutation registry for Barth syndrome
Lund University
Department of Experimental Medical Science

UNITED KINGDOM

Essex
LONDON

North Star database
Great Ormond Street Hospital
Dubowitz Neuromuscular Centre

Networks of registries and biobanks

GERMANY

Bayern
MÜNCHEN

Brain-Net Germany : National network of brain banks in Germany
  • Zentrum für Neuropathologie und Prionforschung (ZNP)
  • Zentrum für Neuropathologie und Prionforschung der LMU München
  • SPAIN

    Cataluña
    BARCELONA

    NMD-ES: Spanish Registry of Neuromuscular Diseases
  • Hospital de la Santa Creu i Sant Pau
  • Servicio de Neurología
  • UNITED KINGDOM

    Tyne & Wear
    NEWCASTLE UPON TYNE

    Funded by an IRDiRC memberTREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (registries)
  • Newcastle upon Tyne Hospitals NHS Trust
  • Institute of Genetic Medicine
  • GERMANY

    Baden-Württemberg
    HEIDELBERG

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

    South Yorkshire
    SHEFFIELD

    Funded by an IRDiRC memberEUROWILSON: European network on Wilson disease (registries)
  • The Sheffield Children's Hospital
  • Sheffield Children's Hospital (Division of Child Health)
  • FRANCE

    AUVERGNE-RHONE-ALPES
    BRON

    Funded by an IRDiRC memberEugène Devic European Network (EDEN): establishment and use of an European database and biological bank for research and treatment in acute neuromyelitis optica and related disorders
  • CHU de Lyon HCL - GH Est
  • Service de neurologie - sclérose en plaques, pathologies de la myéline et neuro-inflammation
  • FRANCE

    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
  • UNITED KINGDOM

    Antrim and Newtownabbey
    NEWTOWNABBEY

    UNITED KINGDOM

    Tyne & Wear
    NEWCASTLE UPON TYNE

    BINOCAR: British Isles network of congenital anomaly registries
  • Regional Maternity Survey Office
  • British Isles Network of Congenital Anomaly Registers (BINOCAR)
  • GERMANY

    Niedersachsen
    HANNOVER

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