Fundo Regional da Ciência e Tecnologia
Cost Center:1203
Title:ESMI: European Spino-Cerebellar Ataxia Type 3/Machado-Joseph Disease Initiative
Start-End:01-01-2024 - 31-12-2024
Entidade Beneficiária Principal:Fundação Gaspar Frutuoso
Gestores da FGF: Gonçalo Goulart, Paula Oliveira
Responsible Researcher:Maria Manuela de Medeiros Lima
Organic Units:FCT - Faculdade de Ciências e Tecnologia
EntidadeFundação Gaspar Frutuoso
Total Financing25.000,00 €
Fundo Regional da Ciência e Tecnologia (100.0 %)25.000,00 €
Main Objectives:

The ESMI network emerged as part of the participation of the University of the Azores team in the European project ESMI (European Initiative for Spino Cerebellar Ataxia type 3/Machado-Joseph disease), funded by the JPND (Neurodegenerative Disease Research) network, which aimed define and standardize patient observation and biomaterial collection protocols, clinically and molecularly characterizing an extensive group of patients with Machado-Joseph Disease (JDM) and asymptomatic carriers of the mutation.

Project Description:

And the need to ensure the continuity of the follow-up study of patients with Machado-Joseph Disease (MJD) and asymptomatic carriers of the mutation, seeking to contribute to a detailed knowledge of the natural history of the disease, with a direct impact on therapeutic discoveries. Translating the international recognition of the work that was developed in the ESMI project and highlighting our Region in an extremely competitive European context. The inclusion of the Azores in this Network is of the greatest relevance for patients and families, specifically because it keeps them in direct connection with potential therapeutic developments, facilitating their integration into emerging clinical trials.