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

We analysed whole-genome sequences of 560 breast cancers to advance understanding of the driver mutations conferring clonal advantage and the mutational processes generating somatic mutations. We ...

Harlequin ichthyosis is an extremely rare genetic mutation that affects the skin. Infants who are born with the condition are covered with a hard and very thick layer of skin, that has deep cracks.

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

CFTR is a protein essential to wet surfaces throughout your body, like the airways of your lungs. People with cystic fibrosis have a gene mutation that causes problems with the protein. Some ...

Translocations, in genetics, happen when chromosomes break and the pieces attach to other chromosomes. This mixing of genetic material has important results. The resultant chromosomes are lacking in ...