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

Mutations are changes in the molecular 'letters' that make up the DNA code, the blueprint for all living cells. Some of these changes can have little effect, but others can lead to diseases, including ...

Is Obesity Genetic or Environmental? Get All the Details This article was reviewed by Lynn Marie Morski, MD, JD. Key ...

A whole lot more than just one genetic mutation determines whether and how disease develops. lvcandy/DigitalVision Vectors via Getty Images Genetic inheritance may sound straightforward: One gene ...

Congenital stationary night blindness (CSNB) is caused by mutations in a specific calcium channel. A comprehensive proteomic study by researchers at the University of Innsbruck now reveals how these ...

Rare genetic traits are features that are uncommon within the general population. They can lead to different observable features or to rare physical abilities. Rare genetic traits are typically ...

Tuberculosis is a confounding scourge. It's the leading cause of death from infectious disease in the world, and yet it's estimated that those deaths represent perhaps 5% of infections with ...

In collaboration with a foundation that breeds service dogs for the visually impaired, researchers at the School of Veterinary Medicine at the University of Pennsylvania and the University of Padova ...

Hydrocephalus is a life-threatening condition that occurs in about 1 in 1,000 newborns and is often treated with invasive ...