Scientists pinpoint a key gene behind heart defects in Down syndrome
Peer-Reviewed Publication
Updates every hour. Last Updated: 3-Apr-2026 08:15 ET (3-Apr-2026 12:15 GMT/UTC)
For decades, scientists struggled to pin down which gene is responsible for the heart problems that are so common among babies born with Down syndrome. Now, scientists at Gladstone Institutes have an answer. In a study published in Nature, the researchers leveraged stem cell science and artificial intelligence to discover that a gene called HMGN1 disrupts how DNA is packaged and regulated, and can throw off levels of hundreds of other molecules involved in healthy heart development.
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