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Registries and Biobanks

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Registre Central des Maladies Rares / Centraal Register Zeldzame Ziekten
Sciensano
Health Services Research - Rare Diseases

SPAIN

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

SPAIN

Aragón
ZARAGOZA

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

SPAIN

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

SPAIN

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

SPAIN

Comunidad Valenciana
VALENCIA

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

SPAIN

Extremadura
MÉRIDA

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

SPAIN

Galicia
SANTIAGO DE COMPOSTELA

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

SPAIN

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

SPAIN

Madrid
MADRID

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

SPAIN

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

SPAIN

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

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
Département de Génétique Clinique - Institut de Pathologie et de Génétique (IPG)

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
Terveyden ja hyvinvoinnin laitos (THL)
Finnish Institute for Health and Welfare (THL)

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

FRANCE

ILE-DE-FRANCE
PARIS

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

Funded by an IRDiRC memberFACE - National registry for Robin sequence
Behandlungs- und Forschungszentrum für Seltene Erkrankungen ZSE Tübingen
Zentrum für Seltene Erkrankungen (ZSE) Tübingen

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

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

LIGURIA
GENOVA

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

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

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

Groningen
GRONINGEN

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

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

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

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

SWITZERLAND

Suisse Romande
LAUSANNE

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

UNITED KINGDOM

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

DENMARK

Hovedstaden
COPENHAGEN

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

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

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

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Funded by an IRDiRC memberRaDiCo-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

GERMANY

Bayern
MÜNCHEN

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

IRELAND

County Dublin
DUBLIN

National Cleft Database - contributes to EUROCAT
St James's Hospital
Craniofacial Orthodontic Service

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

NETHERLANDS

Zuid-Holland
ROTTERDAM

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

SPAIN

Castilla - León
SALAMANCA

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

SWITZERLAND

Suisse Alémanique
BASEL

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

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

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

FRANCE

ILE-DE-FRANCE
PARIS

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

GERMANY

Bayern
MÜNCHEN

mitoREGISTRY: Registry for patients with mitochondrial diseases - subproject of mitoNET
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

GERMANY

Bayern
MÜNCHEN

MitoP2: Mitochondrial Proteome Database for mitochondria-related genes, proteins and diseases
Institut für Humangenetik der TU München
Institut für Humangenetik

GERMANY

Bayern
MÜNCHEN

mitoSAMPLE: Biobank for mitochondrial diseases - subproject of mitoNET
Institut für Humangenetik der TU München
Institut für Humangenetik

HUNGARY

Dél-Dunántúl
PECS

Mitochondrial DNA disorders biobank
Clinical Center - University of Pécs
Department of Medical Genetics

ITALY

CAMPANIA
NAPOLI

Bank for the Diagnosis and Research on neuromuscular Disorders (NHMGB) (EuroBioBank partner)
AOU Università degli Studi della Campania "Luigi Vanvitelli" - Centro storico
Servizio di Cardiomiologia e Genetica Medica

ITALY

LAZIO
ROMA

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

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberMITOCON: National registry mitochondrial disease
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Unità di Malattie Neuromuscolari e Neurodegenerative - Laboratorio di Medicina Molecolare

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
MILANO

Cell Line and DNA Bank of Paeditric Movement Disorders
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare

NETHERLANDS

Limburg
MAASTRICHT

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

NETHERLANDS

Noord-Holland
AMSTERDAM

Biobank Lysosomal Storage Diseases (plasma/serum/peripheral blood cells/fibroblasts/urine)
Amsterdam UMC, locatie AMC
Afdeling Erfelijke Stofwisselingsziekten

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

SPAIN

Cataluña
BARCELONA

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

SPAIN

Cataluña
BARCELONA

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

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
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine

UNITED STATES

California
IRVINE

MITOMAP: A human mitochondrial genome database. A compendium of polymorphisms and mutations of the human mitochondrial DNA
University of California
Center for molecular and mitochondrial medicine & genetics

UNITED STATES

Georgia
ATLANTA

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

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

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
PARIS

Funded by an IRDiRC memberRaDiCo-MPS: National cohort on Mucopolysaccharidosis in the era of specific therapeutics
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Service de Neuropédiatrie - Unité de neuropédiatrie et pathologie du développement

GERMANY

Nordrhein-Westfalen
MÜNSTER

GERMANY

Rheinland-Pfalz
MAINZ

German mucopolysaccharidosis patient registry
Universitätsmedizin Mainz
Villa Metabolica - Schwerpunktbereich angeborene Stoffwechselerkrankungen

PORTUGAL

NORTE
PORTO

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

SWEDEN

Region Skåne
LUND

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

UNITED KINGDOM

Buckinghamshire
AMERSHAM

UK mucopolysaccharidosis registry
MPS House
The Society for Mucopolysaccharide Diseases

AUSTRALIA

Western Australia
MURDOCH

Funded by an IRDiRC memberGaucher disease registry model
Murdoch University
Centre for Comparative Genomics (CCG)

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

BULGARIA

 South Central region
PLOVDIV

National registry of patients with Gaucher 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

FRANCE

ILE-DE-FRANCE
CLICHY

French certified registry of patients affected by Gaucher disease
CHU Paris Nord-Val de Seine - Hôpital Beaujon
Service de médecine interne

FRANCE

ILE-DE-FRANCE
PARIS

FROG: FRench Observatory on Gaucher disease
Actelion Pharmaceuticals France SAS

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 FBN2 (fibrillin 2) mutations database
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

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

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

Funded by an IRDiRC memberInternational Collaborative Gaucher Group (ICGG) Gaucher Registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

GERMANY

Hamburg
HAMBURG

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

GERMANY

Hamburg
HAMBURG

Funded by an IRDiRC memberPompe Disease 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: 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

IRELAND

County Dublin
DUBLIN

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

ITALY

TOSCANA
FIRENZE

Italian registry of hypertrophic cardiomyopathy in Anderson-Fabry disease
AOU Careggi
Dipartimento Cuore e Vasi - Cardiologia generale 1

ITALY

TOSCANA
FIRENZE

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

NETHERLANDS

Noord-Holland
AMSTERDAM

Dutch patient registry for Niemann-Pick Disease Type C
Amsterdam UMC, locatie AMC
Afdeling Erfelijke Stofwisselingsziekten

NETHERLANDS

Noord-Holland
AMSTERDAM

Dutch patient registry for Fabry disease
Amsterdam UMC, locatie AMC
Afdeling Erfelijke Stofwisselingsziekten

NETHERLANDS

Noord-Holland
AMSTERDAM

Dutch patient registry for Niemann-Pick Disease Type B
Amsterdam UMC, locatie AMC
Afdeling Erfelijke Stofwisselingsziekten

NETHERLANDS

Noord-Holland
AMSTERDAM

Dutch patient registry for Gaucher disease
Amsterdam UMC, locatie AMC
Afdeling Erfelijke Stofwisselingsziekten

NETHERLANDS

Noord-Holland
NAARDEN

NETHERLANDS

Noord-Holland
NAARDEN

The intenational Pompe registry
Genzyme Europe B.V.

NETHERLANDS

Noord-Holland
NAARDEN

The international Fabry registry
Genzyme Europe B.V.

NETHERLANDS

Noord-Holland
NAARDEN

The international Mps I registry
Genzyme Europe B.V.

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

PORTUGAL

NORTE
PORTO

Portuguese Fabry patient registry - contributing to the international Fabry registry
Centro Hospitalar de S. João, EPE
Departamento de Genética

SPAIN

Aragón
ZARAGOZA

REEG: Spanish Gaucher's disease registry
Fundación Española para el estudio y terapéutica de la enfermedad de Gaucher

SPAIN

Cataluña
BARCELONA

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

SWITZERLAND

Suisse Alémanique
BERN

Funded by an IRDiRC memberSwiss Pompe Registry
Inselspital Universitätsspital
Centre for Neuromuscular Diseases

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

West Midlands
BIRMINGHAM

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

UNITED STATES

Arizona
TUCSON

International Morquio A registry
The Carol Ann Foundation & The International Morquio Organization

UNITED STATES

Massachusetts
CAMBRIDGE

FOS : Fabry Outcome Survey
Shire Human Genetics Therapies, Inc.

UNITED STATES

Massachusetts
CAMBRIDGE

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

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

NETHERLANDS

Noord-Holland
NAARDEN

Networks of registries and biobanks

SPAIN

Madrid
MADRID

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

    Antrim and Newtownabbey
    NEWTOWNABBEY