Friedreich’s Ataxia (FRDA) is an autosomal recessive neurodegenerative disorder that is predominantly caused by a homozygous GAA repeat expansion mutation within intron 1 of the Frataxin (FXN) gene. This inherited disease causes nervous system damage and movement problems. To date, there is no cure or effective treatment for FRDA.
We provide proof of concept studies and/or drug efficacy studies in Friedreich’s Ataxia models including services such as clinical observations, body weights, tissue and/or blood collection, and molecular analyses (e.g. ELISA or western blotting) for evaluation of FXN expression levels in the most published models of FRDA: