Mark Ebbert, Ph.D., studies neurodegenerative diseases using cutting-edge sequencing technologies and computational approaches such as computational biology and bioinformatics. Dr. Ebbert’s research focuses primarily on Alzheimer’s disease (AD) and amyotrophic lateral sclerosis (ALS, or Lou Gehrig’s disease).

Ultimately, Dr. Ebbert aims to discover disease etiology and develop presymptomatic diagnostics and effective therapeutics through targeted multiomic studies that combine gene expression, methylation, and long-read and single-cell sequencing technologies. Discovering the underlying etiology for AD and ALS will ultimately require discovering the mechanism at which genetics, epigenetics and downstream processes intersect to drive disease.

Long-read sequencing is of special interest to Dr. Ebbert because it can identify large DNA mutations (such as structural mutations) that cause disease. Many individuals who have neurodegenerative diseases such as AD and ALS do not have a known genetic cause, despite extensive efforts from medical and research communities. Most studies to date have focused on short-read sequencing, overlooking disease-causing structural mutations. Dr. Ebbert is using long-read sequencing technologies to identify disease-causing structural mutations in families and diseases with no known genetic cause.

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