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Terminated research projects = Funded by an IRDiRC member = Member of a ERN =

Research projects

UNITED STATES

Maryland
BETHESDA

Funded by an IRDiRC memberCharacterization of human progenitor Tay-Sachs neurons
National Center for Advancing Translational Sciences (NCATS-NIH)
Chemistry Technologies

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberWhole-body therapy for gm2 gangliosidoses
Institution: Information not provided - US

GERMANY

Hessen
HOCHHEIM

Eight At One Stroke: Attention Gangliosidoses A Registry Study for Patients With Gangliosidoses
SphinCS Lyso gemeinnützige UG (Haftungsbeschränkt)
SphinCS GmbH

SPAIN

Cataluña
BARCELONA

Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders
Instituto de Química Avanzada de Cataluña
Unidad de Investigación en Moléculas Bioactivas

SPAIN

País Vasco
SAN SEBASTIÁN

Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders
Instituto de Investigación Sanitaria Biodonostia
Área de Neurociencias

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

Cataluña
BARCELONA

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona
Programa de investigación en Enfermedades no transmisibles y medio ambiente

SPAIN

Madrid
MADRID

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

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

Cataluña
BARCELONA

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular

SPAIN

Cataluña
SABADELL

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
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

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

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

SWEDEN

Region Stockholm
STOCKHOLM

Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery (MMK)

SWITZERLAND

Suisse Romande
LAUSANNE

Cardiac Manifestations in Adult Patients With Inherited Metabolic Disease: a Case Series
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont
CMM - Centre des Maladies Moléculaires

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

Multicentric Research projects