A research team at the Greenwood Genetic Center (GGC) has identified the mechanism that causes movement disorders in patients with mutations in the NUS1 gene. Using both cellular and model organism studies, cholesterol accumulation was found to contribute to the symptoms of seizures, ataxia, and movement abnormalities. This breakthrough study on NUS1, a gene that […]
A large, retrospective study shows how germline genetic testing has evolved over time in women with breast or ovarian cancer and reveals a path forward for testing these patients. Investigators found racial and ethnic disparities in genetic testing as well as “persistent underuse” of testing in patients with ovarian cancer. The team also discovered that […]
With the COVID-19 pandemic still raging worldwide, members of the American Society of Human Genetics (ASHG) are working to understand how the virus spreads and infects people, why there is so much variability in susceptibility and severity, and where to look for potential therapeutics. Researchers presented the results of several studies relevant to the current […]
Scientists have discovered a deadly genetic disease by working backwards: beginning with the genes, rather than the symptoms. The condition, called VEXAS after its key features, is an inflammatory condition that tends to cause symptoms including blood clots, fevers, and, in 40% of cases, death. The discovery is being hailed by medical and scientific professionals […]
