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

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 ...

Scientists have corrected gene mutations in mice causing an ultra-rare disease by editing DNA directly in the brain with a single injection, a feat with profound implications for patients with ...

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

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 ...

A new scientific study reveals the unusual genetic mutation that makes orange cats different from nearly every other mammal ...

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 ...

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 ...