NIH’s SMaHT Network will chart trillions of somatic mutations to reveal how our DNA changes over a lifetime. In a nutshell ...

Fourteen million people worldwide suffer from enlarged hearts, or hypertrophic cardiomyopathy (HCM), a genetic disease that ...

The mutations, known as copy number alterations, involve the duplication or loss of large segments of DNA. In most cases, the body's natural DNA repair mechanisms correct these changes.

Researchers working on an incurable blood cancer can now use a new lab model that could make testing potential new treatments ...

PIK3CA gene mutations are found in about 30% to 40% of breast cancers. It’s important to know your tumor’s PIK3CA status because it may affect how your doctor treats your cancer.

Genetic Medicine Can Leave People With Rare Mutations Behind. but There's New Hope Emily Kramer-Golinkoff can’t get enough oxygen with each breath. Advanced cystic fibrosis makes even simple ...

From the time we are conceived and through old age, genetic mutations accumulate in all our tissues, eluding the body's ...

But her case is caused by a rare genetic mutation, so medications that work for 90% of people with cystic fibrosis won’t help her. The same dynamic plays out in other genetic conditions.

A newly identified mutation helps super-sleepers get by on just four to six hours of shut-eye per night, while the rest of us need around eight hours. Researchers described the SIK3-N783Y mutation ...

But her case is caused by a rare genetic mutation, so medications that work for 90% of people with cystic fibrosis won’t help her. The same dynamic plays out in other genetic conditions.

This photo provided by Emily’s Entourage in April 2025 shows Emily Kramer-Golinkoff, who has cystic fibrosis caused by a rare genetic mutation, during a trip to Maine. (Emily’s Entourage via ...