A groundbreaking study performed by investigators at the UTHealth John Ritter Research Program was published in the July 2018 issue of the American Journal of Human Genetics. It describes how patients who have aortic dissections but no family history or syndromic features have an increased burden of rare genetic variants of unknown significance (VUSs) in genes known to cause heritable thoracic aortic disease (HTAD). The team tested how variants of unknown significance can impact function and emphasize the need to further understand how these can cause disease in combination with other factors, so the knowledge can be used to help patients. A link to the paper is here.
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