Utah ALS Biosampling Project: Linking Genes to Populations

Amyotrophic lateral sclerosis (ALS), or Lou Gehrig's Disease, is a progressive neurodegenerative disorder that causes motor neurons to die. When this happens, the brain is unable to control muscle movement, which can lead to total paralysis. Currently there is no cure for ALS, and patients typically die within three years following the onset of symptoms.

Ten percent of ALS cases are inherited (familial ALS, fALS). Previous studies suggest that the Utah Population Database (UPDB) has within it populations that carry as of yet unidentified genetic mutations that lead to fALS. The goal of this project is to identify those mutations by combining two approaches: analyzing families within UPDB that are at high-risk for developing fALS, and studying patients that visit University Health Care’s busy ALS multidisciplinary clinic.

Over the past four years, neurologists Stefan Pulst, M.D. and Summer Gibson, M.D., have been collecting DNA samples both from patients and from their families, with their full consent. So far, they have collected about 500 samples, including 27 from patients with fALS. These data are being added to the UPDB to identify new families who are at high-risk for ALS, and to expand on families that carry fALS that are already in the UPDB. Additionally, the investigators are searching for families that could provide insight into an unexplained male predominance in fALS. The team is poised to collect any additional DNA that may be required.

The biological mechanisms that lead to ALS remain unknown, but because fALS and sporadic ALS are clinically indistinguishable, they may share a similar underlying pathophysiology. Disease genes identified through this study could shed light onto how both types of ALS develop, potentially leading to novel therapies and treatments.

Familial clustering of ALS in a population-based resource. Gibson SB, Figueroa KP, Bromberg MB, Pulst SM, Cannon-Albright L. Neurology. 2014 Jan 7;82(1):17-22.