Emily Kramer-Golinkoff can’t get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like walking or showering arduous and exhausting. She has the most common fatal ...

Precision medicine in GU cancers is evolving with biomarkers like BRCA1/2 mutations influencing PARP inhibitor use and pembrolizumab's tumor-agnostic approval for microsatellite instability. FGFR3 ...

A vanishingly rare genetic glitch in a single enzyme can erase a newborn’s brain cells in a matter of weeks, leaving doctors ...

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 ...

Before Todd Leach lost his father to a rare, aggressive form of stomach cancer, his dad gave him one last gift: a genetic ...

During development of the digestive system, a complex network of nerves forms around it, creating a "second brain"—the enteric nervous system (ENS)—which controls the movement of food and waste ...

Some fungi live up to 2,500 years thanks to an internal system that eliminates harmful cells and prevents genetic mutations.

Three start-ups are aiming to create gene-edited babies. Columnist Michael Le Page has no doubt that editing our offspring ...

Scientists have traced a devastating pattern of brain cell loss in a handful of families to a single, ultra-rare mutation ...

Environmental factors such as lifestyle and the medications you take influence the effects your genes have on your body — and can clarify how diseases develop. When you purchase through links on our ...

Genetic testing, often via a blood sample, can confirm a muscular dystrophy diagnosis. It can also identify specific gene mutations to help guide treatment and determine whether or not someone is a ...