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

Advanced DNA and RNA sequencing techniques have transformed our understanding of how tumours develop and how histologically similar cancers can be differentiated into various molecular genomic ...

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.

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 ...