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Funded by an IRDiRC member = Member of a ERN =

Research projects

CANADA

Alberta
EDMONTON

Funded by an IRDiRC memberMolecular mechanisms of organelle inheritance
University of Alberta
Department of Cell Biology

CANADA

Ontario
TORONTO

CANADA

Québec
MONTRÉAL

Funded by an IRDiRC memberThe Peroxisome Biogenesis Disorders: From Bench to Bedside
Glen / McGill Univeristy Health Centre - Centre Universitaire de santé McGill
Medical Genetics - Génétique Médicale

CANADA

Québec
MONTRÉAL

Funded by an IRDiRC memberGetting Ready for Vision Therapy in Peroxisome Biogenesis Disorders
The Research Institute of the McGill University Health Centre

CANADA

Québec
MONTRÉAL

Longitudinal Natural History Study of Patients with Peroxisome Biogenesis Disorders (PBD)
The Research Institute of the McGill University Health Centre

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberPeroxisome biogenesis disorders (pbds)
Institution: Information not provided - US

CANADA

Québec
MONTRÉAL

Clinical, radiological and genetic characterization of new forms of leukodystrophies
Montreal Children's Hospital Research Institute - McGill University
Pediatric Neurodegenerative Laboratory

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberNG4LEUKO: Exploring neuron-glia interactions in leukodystrophies using human iPSC-based models: implication for therapy - FR
Institut de Psychiatrie et Neurosciences Paris (IPNP), Inserm UMR_S 1266
Equipe Interactions entre neurones et oligodendroglies dans la myélinisation et la réparation de la myéline

GERMANY

Baden-Württemberg
TÜBINGEN

LEUKO-Expert: Diagnosis Support for the Rare Disease Family Leukodystrophy
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen

GERMANY

Nordrhein-Westfalen
AACHEN

LEUKO-Expert: Diagnosis Support for the Rare Disease Family Leukodystrophy
Universitätsklinikum Aachen
Klinik für Neurologie

GERMANY

Nordrhein-Westfalen
BONN

GERMANY

Sachsen
LEIPZIG

LEUKO-Expert: Diagnosis Support for the Rare Disease Family Leukodystrophy
Universitätsklinikum Leipzig AöR
Klinik und Poliklinik für Neurologie

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberNG4LEUKO: Exploring neuron-glia interactions in leukodystrophies using human iPSC-based models: implication for therapy - IT
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Istituto San Raffaele Telethon per la Terapia Genica

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

CANADA

Ontario
OTTAWA

Funded by an IRDiRC memberEmerging 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

Funded by an IRDiRC memberEmerging 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

Funded by an IRDiRC memberThe Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberDiverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

SPAIN

Madrid
MADRID

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

Funded by an IRDiRC memberBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberIdentification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Fundación para la Investigación Biomédica del Hospital Universitario 12 de Octubre

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

Multicentric Research projects