U.S. researchers identify large genetic changes contributing to dementia risk

(Xinhua) 11:30, May 09, 2023

LOS ANGELES, May 8 (Xinhua) -- Scientists at the U.S. National Institutes of Health (NIH) have identified new genetic risk factors for two types of non-Alzheimer's dementia, the agency said on Monday.

The team identified large-scale DNA changes, known as structural variants, by analyzing thousands of DNA samples.

Structural variants have been implicated in a variety of neurological disorders. By combining cutting-edge computer algorithms capable of mapping structural variations across the whole genome with machine learning, the research team analyzed whole-genome data from thousands of patient samples and several thousand unaffected controls.

By looking at a group of 50 genes implicated in inherited neurodegenerative diseases, the investigators were able to identify additional rare structural variants, including several that are known to cause disease.

"Research to unravel the intricate genetic architecture of neurodegenerative diseases is resulting in significant advances in scientific understanding," said Bryan J. Traynor, senior investigator at the U.S. National Institute on Aging. "With each discovery, we shed light on the mechanisms behind neuronal cell death or dysfunction, paving the way for precision medicine to combat these debilitating and fatal disorders."

(Web editor: Zhang Kaiwei, Wu Chaolan)


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