November 10, 2022

Research Project for Rare Disease Wins a Grant from ARSACS Foundation

A new path on the therapeutics for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) may become a reality. A project of Adelaide Fernandes (Faculty of Pharmacy of Universidade de Lisboa), Frederico Herrera (Faculty of Siences of Universidade de Lisboa) and Michelle Adams (Bilkent University, Turkey) just won a grant from Ataxia Charlevoix-Saguenay Foundation.

ARSACS is a rare debilitating and hereditary progressive childhood neurological disorder, due to a mutation in Sacsin protein that affects the spinal cord and the peripheral nerves. Generally, symptoms appear between the ages of 2 and 5 years old, when a child’s motor skills become affected. The final goal of this project is to unravel the putative role of glial cells in ARSACS.

This support granted by ARSACS Foundation is extremely important so that there is no therapeutics yet for this disease. The goal is to develop studies to assess the response of different cells of the nervous system, besides brain cells, to understand ARSACAS and discover new possible treatments to improve the life quality of the patients.

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