Federal Project Grant Summary

Mayo Clinic Jacksonville has received a $627,408 Project Grant award from the National Institute of Neurological Disorders and Stroke (NINDS) under the Extramural Research Programs in the Neurosciences and Neurological Disorders program (CFDA 93.853), effective May 20, 2026, with completion targeted for April 30, 2031. This research initiative will employ targeted long-read DNA sequencing technology to characterize the C9ORF72 repeat expansion—the most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The project will analyze repeat length, methylation profiles, and sequence content in longitudinally collected blood specimens from symptomatic and pre-symptomatic C9ORF72 expansion carriers to identify disease modifiers that may explain the substantial phenotypic heterogeneity observed across affected individuals.

This research addresses a critical knowledge gap regarding the C9ORF72 expansion, which has lacked well-established pathogenic thresholds and accurate characterization methods despite its discovery over a decade ago. By leveraging sequencing advances to obtain detailed molecular data across diverse patient populations and disease states, the project aims to elucidate mechanisms underlying variable disease presentation and progression, thereby informing future therapeutic development targeting this genetic cause of neurodegenerative disease.