PHD student does her thesis on ARSACS

In Activities by ARSACS

Mrs. Emma Duncan a student in Professor Paul Chapple’s laboratory at Queen Mary University of London, who was partly funded by the ARSACS Foundation, successfully passed her PhD examination. Mrs Duncan’s thesis on ‘The Neurodegenerative Disease Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Cellular Defects Due To Loss of Sacsin Function’ used cells grown from skin biopsies of Dutch and British ARSACS patients as a model system  to investigate the molecular pathogenesis of the disease. The findings further implicate problems with mitochondria, which act as the cells power plant, and the cytoskeleton, which regulates cellular shape and transport.