Fundo Regional da Ciência e Tecnologia
Cost Center:1043
Operation Code:M1.1.A/ESMI/001/2021
Title:ESMI Project: European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative
Start-End:14-12-2020 - 31-12-2023
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
R&D Units:CIBIO-A - Centro de Investigação em Biodiversidade e Recursos Genéticos
EntidadeFundação Gaspar Frutuoso
Total Financing90.000,00 €
Fundo Regional da Ciência e Tecnologia (100.0 %)90.000,00 €
Main Objectives:

The project aims to continue the follow-up study of Machado-Joseph patients in the RAA, seeking to contribute to a detailed knowledge of the natural history of the disease, with a direct impact on therapeutic discoveries.

Project Description:

The ESMI network arises 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 network (Neurodegenerative Disease Research) , which aimed to define and standardize patient observation and biomaterials collection protocols, clinically and molecularly characterizing an extensive group of patients with Machado-Joseph Disease (MJD) and asymptomatic carriers of the mutation.