LOS ANGELES – Scientists at the US 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 analysing thousands of DNA samples, said Xinhua.
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 analysed 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 US 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.” – Bernama
