Project M3.3.B/ORG.R.C./009/C/2024

The main objectives of the ESMI@Azores 2024 initiative are: 1) Evaluate the activities developed by the Consortium involved in the ESMI Network, with emphasis on: - Recruitment of mutation carriers and healthy individuals (controls). - Advances in knowledge of the natural history of the disease. - Identification of new biomarkers of the disease. - Discovery of new therapeutic targets. - Share with the community affected by Machado-Joseph Disease (MJD), represented by patient associations, the progress achieved and outline the objectives of the ESMI Network in the short and medium term. 2) Discuss with pharmaceutical companies associated with the ESMI Network (Servier and UCB) the advances obtained through the transfer of knowledge generated by the project.

The ESMI Network (ESMI Network), in which the representation of the Autonomous Region of the Azores (RAA) is through the University of the Azores (IR: Manuela Lima) which coordinates it, and the Hospitals of Divino Espírito Santo (São Miguel) and Santo Espírito (Terceira), represents the most consolidated international initiative in the area of ​​Machado-Joseph disease. The network annually monitors a cohort of more than 400 mutation carriers, with the aim of preparing a cohort for emerging clinical trials (Trial Ready Cohort). The ESMI consortium collaborates with two international pharmaceutical companies, Servier and UCB, aiming to transfer the knowledge generated at ESMI for the effective development of new therapies for Machado-Joseph disease, which remains untreated. The ESMI@Azores 2024 event represents a unique opportunity to meet the national and international scientific community that is currently leading research into this pathology, which is highly prevalent in our region. The meeting will bring together researchers who are members of the Consortium's "Executive Board" and their research teams, postgraduate students, representatives of patient associations and representatives of the pharmaceutical companies Servier and UCB, in an estimated total of 40 participants. The event will take place over a day and a half; On the first day, presentations will be made about the scientific progress developed by the various partners of the ESMI Network. The morning of the second day will be dedicated to discussions with representatives of patient associations and pharmaceutical companies.