Researchers at privately-held Genuity Science and Yale University Medical School have revealed why aortic aneurysms form. The scientists discovered that an expansion in abnormal cells in smooth muscle tissue of the aorta can contribute to aortic aneurysm.
The researchers came to that conclusion by using a combination of generative artificial intelligence, single-cell biology and RNA sequencing to uncover causal molecular drivers of cell fate transition in aortic aneurysms.
Subsequent investigations have revealed a possible genetic cause of the disease in humans, by specifically linking a genetic variant in a gene of unknown significance to disease pathogenesis.
In 2018, almost 10,000 people in the U.S. died from ruptured aortic aneurysms, according to the CDC. Currently, the first line of defense against the disease is surgical intervention. These findings could potentially lead to new drug targets and therapies for aneurysms.
The researchers published their findings in Cell Stem Cell.