Some lucky people have rare genetic mutations that enable them to feel well-rested after just four hours of sleep, while the rest of us need around eight hours to function. Now, researchers have ...

Researchers have identified specific genes containing rare mutations that significantly increase the likelihood of developing attention deficit hyperactivity disorder. These findings, published in the ...

Thousands of previously “invisible” microproteins—tiny chains of fewer than 100 amino acids—can profoundly change human biology when mutated. A fundamental discovery is overturning decades of ...

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism by which brain cells die. The findings raise the possibility that similar ...

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 ...

Scientists have pinpointed precise regions in the human genome where DNA is most likely to develop a mutation. At spots where RNA polymerase 'opens' your DNA to read and copy instructions – known as ...

A Mayo Clinic-led team of researchers is solving one of the most frustrating aspects of genetic cancer screening — results that give zero guidance to patients on whether they are at elevated risk.