Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism by which brain cells die. A team led by scientists at the German research ...

A new study has found a rare genetic mutation that allows some of us to get only a few short hours of sleep and wake up feeling fully rested and wide awake.

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

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 CRISPR system detects rare cancer mutations in blood with single-nucleotide precision, outperforming ddPCR through engineered RNA guides and isothermal amplification. (Nanowerk Spotlight) Hidden ...