Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders

New York Stem Cell Foundation Conference

Candela presented at the New York Stem Cell Foundation Conference (New York, October 22-23, 2019) the cell models of PLAN (PLA2G6-associated neurodegeneration) and ARSACS (autosomal recessive spastic ataxia of Charlevoix-Saguenay) in which she works on her thesis. In both cases, the aim is to generate new cellular models derived from hiPSCs of patients with these severe neurodegenerative disorders that faithfully replicate the pathophysiology of the disease so that it is useful for drug screening.