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Funded by an IRDiRC member = Member of a ERN =
Research projects

AUSTRIA
WIEN
ADDRESS: NOT PROVIDED - AT
SPARKLE: THE ALPHA-MANNOSIDOSIS REGISTRY: A multi-centre, multi-country, non interventional, prospective cohort, in alpha-mannosidosis patients - AT
Institution: Information not provided - AT

GERMANY
Niedersachsen
GÖTTINGEN
Neurodegenerative disorders with onset in childhood and adolescence ('childhood dementia') - major causes and therapy approaches
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin

SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Translational diagnostics program for undiagnosed and rare diseases: bringing together clinical phenotype, genome, and biological function and structure
Hospital Sant Joan de Déu Barcelona
Servicio de Medicina Genética y Molecular

ITALY
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

SPAIN
Madrid
MADRID
RAREGenomics: Network of Genomic, Functional, Clinical and Therapeutic Resources for the Study of Rare Neurological Diseases
Hospital Universitario Fundación Jiménez Díaz
Servicio de Genética Clínica

CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

JAPAN
JAPAN
AICHI
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University

JAPAN
JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University

JAPAN
JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

PORTUGAL
NORTE
PORTO
Splicing therapeutics for patients affected by lisosomal storage disorders.
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Unidade de Investigação & Desenvolvimento; Departamento de Genética

PORTUGAL
NORTE
PORTO
The crosstalk between lipid antigen presentation and the pathogenic mechanisms of Lysosomal Storage Diseases
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma

SPAIN
Madrid
MADRID
Bioinformatics developments based on network and systems biology to identify new candidate genes for rare genetic diseases
Fundación Jiménez Díaz
Área de Genética y Genómica

UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

CANADA
Ontario
OTTAWA
Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario

CANADA
Ontario
OTTAWA, ONTARIO
Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

ITALY
LAZIO
ROMA
The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

SWEDEN
Region Stockholm
STOCKHOLM
Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

SWITZERLAND
Suisse Alémanique
ZÜRICH
Identification and Validation of Relevant Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten

UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US

UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US
Multicentric Research projects
- Faculté de médecine - RTH Laënnec
- Métabolomique et maladies métaboliques
- Institut für Biochemie der Universität Kiel
- Unit of Molecular Cell Biology and Transgenic Research
- Institut für Biochemie der Universität Kiel
- Unit of Molecular Cell Biology and Transgenic Research
- HSK, Dr. Horst Schmidt Kliniken GmbH
- Zentrum für Seltene Erkrankungen (ZSE) Wiesbaden
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
- Azienda Ospedaliera Universitaria "Federico II"
- Laboratorio Dipartimento di Pediatria
- Istituto San Raffaele Telethon per la Terapia Genica - TIGET
- Istituto San Raffaele Telethon per la Terapia Genica
- University of Ottawa
- Faculty of Medicine -
- Institut Fédératif de Biologie
- Laboratoire de Biochimie
- Oxford University Begbroke Science Park
- Zyoxel Limited

FRANCE
AUVERGNE-RHONE-ALPES
LYON
Réseau sur les maladies de surcharge lysosomales

GERMANY
Schleswig-Holstein
KIEL
HUE-MAN: Towards the development of an effective enzyme replacement therapy for human alpha- mannosidosis (FINISHED)

GERMANY
Schleswig-Holstein
KIEL
ALPHA-MAN: clinical development of enzyme replacement therapy in alpha-mannosidosis patients using recombinant human enzyme (Terminated)

GERMANY
Hessen
WIESBADEN
InNerMeD-I-Network: Inherited NeuRoMetabolic Diseases Information Network

CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)

FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy

FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health

ITALY
CAMPANIA
NAPOLI
EUCLYD: A European consortium for Lysosomal disorders (TERMINATED)

ITALY
LOMBARDIA
MILANO
PERSIST: Persisting transgenesis (TERMINATED)

CANADA
Ontario
OTTAWA, ONTARIO
CIMDRN- Canadian Inherited Metabolic Diseases Research Network

FRANCE
OCCITANIE
TOULOUSE
Réseau Sud-Ouest des erreurs innées du métabolisme

UNITED KINGDOM
Oxfordshire
BEGBROKE