Determination of ALS genetic variants in a prospective clinic cohort

Takeaway

  • Consistent genetic testing methods coupled to an understanding of clinically meaningful genetic variants in clinic-based amyotrophic lateral sclerosis (ALS) populations are essential for the future treatment landscape of ALS.

Why this matters

  • There is an increasing need to improve genetic testing and to determine the incidence of genetic forms of ALS in clinic-based populations as new gene-targeted therapies undergo clinical testing.

  • A greater understanding of the incidence of pathogenic variants is essential in prioritizing targets for therapeutic intervention and informing clinical trial design.