To celebrate Rare Disease Day, the Center for Neuroscience and Cell Biology from the University of Coimbra (CNC-UC) promoted, on February 25, 2025, a meeting dedicated to Machado-Joseph Disease and other hereditary ataxias. The event brought together over 60 participants, including patients, family members, researchers, and healthcare professionals involved in the study and treatment of ataxias.
The event aimed to raise awareness about rare diseases and share scientific advancements in ataxia research. It featured expert lectures and interactive discussions, with the Portuguese Association for Hereditary Ataxias (APAHE) playing a key role in fostering dialogue between the scientific community and patients. The initiative took place at UC-Exploratório.
During the event, some of the latest projects from CNC-UC were presented, including recent progress in Machado-Joseph Disease research. Among the highlighted projects were GeneT and GeneH, which focus on accelerating the development of innovative treatments for various rare diseases, including Machado-Joseph Disease.
The researchers emphasized the importance of collaboration between the scientific community and patients, stressing that this partnership is essential for accelerating discoveries, advancing research, improving clinical responses, and enhancing health literacy in the field.
“Our goal is to bring research closer to patients and their families. Every small step in science gives us a deeper understanding of the disease and brings us closer to developing new therapies" emphasized Magda Santana, the researcher responsible for organizing the event.
The testimonies of the participants highlighted the significance of the initiative: “It is a hard struggle, but unity gives us strength. And knowing that someone is looking out for us helps us sleep better” said one of the attendees living with the disease, emphasizing the positive impact of the event.
With this initiative, CNC-UC reinforced its commitment to research and support for the ataxia community. The institution encourages everyone to stay informed about developments in this field and to participate in future studies and initiatives, contributing to the advancement of knowledge.

Catarina Barreiros and Magda Santana