Scientists pinpoint a key gene behind heart defects in Down syndrome
SAN FRANCISCO—October 22, 2025—Nearly half of all babies born with Down syndrome face congenital heart defects, often involving serious malformations that require surgery in the first months of life.
For decades, scientists have known that having an extra copy of chromosome 21—the genetic cause of Down syndrome—was responsible, but they couldn’t pin down which of its hundreds of genes were key for causing the heart problems.
Now, scientists at Gladstone Institutes have an answer. In a study published in Nature, the researchers leveraged stem cell science and ...