Collaborative Efforts for Spinocerebellar Ataxia Research in the United States: CRC-SCA and READISCA.

ABSTRACT: Spinocerebellar ataxias are progressive neurodegenerative disorders primarily affecting the cerebellum. Although the first disease-causing gene was identified nearly 30 years ago, there is no known cure to date, and only a few options exist for symptomatic treatment, with modest effects. The recently developed tools in molecular biology, such as CRISPR/Cas9 and antisense oligonucleotides, can directly act on the disease mechanisms at the genomic or RNA level in disease models. In a nutshell, we are finally just one step away from clinical trials with therapies targeting the underlying genetic cause. However, we still face the challenges for rare neurodegenerative diseases: difficulty in obtaining a large cohort size for sufficient statistical power and the need for biomarkers and clinical

SUBMITTER: Lin CC 

PROVIDER: S-EPMC7479060 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature