Scientists have traced a devastating pattern of brain cell loss in a handful of families to a single, ultra-rare mutation that sabotages one of the brain’s key protective enzymes. The discovery not ...

Thousands of times per year, a family’s moment of joy turns to unexpected grief. A seemingly healthy infant stops smiling or ...

Watch: Sperm Donor With Rare Mutation Linked to Cancer Sparks Debate After Fathering 67 Kids A sperm donor with a rare genetic mutation linked to cancer is sparking debate about regulation of the ...

Families with rare gene mutations that cause Alzheimer's in middle age are giving scientists a unique window on the disease, ...

Researchers identified a new genetic mutation that may allow some people to survive, even thrive, on three hours of sleep. The mutation is called SIK3-N783Y. Scientists said mice test subjects ...

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 ...

Frenchies are already adorable, but there’s one pup who is making waves on social media. He looks like a French Bulldog, because he is, but there’s a slight difference he has that most other pups of ...