UNDERSTANDING THE REGULATION OF KNOWN GENETIC CONTRIBUTORS TO DISEASE ONSET AND PROGRESSION
HudsonAlpha Faculty Investigators Nick Cochran, PhD , and Rick Myers, PhD , are at the forefront of genomic research in neurodegeneration. They aim to understand what causes progressive brain cell damage and how it can be prevented. A leading theory in neurodegeneration is that damage is largely due to the aberrant buildup of protein aggregates, like beta-amyloid and tau, within and around brain cells. The Cochran lab is working to understand tau at a deeper level in hopes of discovering what goes amiss and how to best prevent or reverse it. In healthy brains, tau protein plays a critical role in maintaining neuronal health. However, in neuro- degenerative diseases, tau undergoes pathologi- cal changes, forming protein tangles that disrupt cellular function and communication. This leads to neuronal degeneration and cognitive decline. Studies on MAPT and tau have been used to create biomarkers and design potential treatments. Cochran’s research extends beyond changes in the MAPT gene itself, focusing on regulatory elements that control whether the gene is expressed at the right time, in the right place, and in the right amount. In a study published in January 2024 in The American Journal of Human Genetics , Cochran and his team, as well as the Myers lab, used many genomic technologies to better understand MAPT expression and identify new regulatory regions that could one day be the target of therapeutics 1 . Through these exhaustive studies, the team identi- fied 97 candidate regulatory elements that control MAPT expression. In late-2024, Drs. Cochran and Myers, along with a collaborator at the University of California San Francisco, were awarded a 5-year, $3.5 million grant from the National Institutes of Health to further study MAPT . The collaborative team will use cutting-edge techniques to discover more controllers of MAPT expression, providing an
Rick Myers, PhD, and Nick Cochran, PhD, collaborating in the lab.
Diving into the regulation of genes will lead to a more holistic picture of how variation in our genomes
leads to disease risk, allowing us to better understand and target problemS involved in these diseases.
— Nick Cochran, PHD
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RESEARCH REPORT 2023-2024
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