What makes the human brain unique? A Yale study unlocks new insights into genetic changes that shaped our evolution.

An artistic depiction of a chromosome that is missing some of its "lights," representing rare diseases where people are missing relatively large portions of their genome from one parent.

For children with signs of neurological conditions such as autism, epilepsy and global developmental delay, genetic testing ...

In a new JAMA Dermatology study, scientists at King's College London found that changes in two parts of the genome work ...

Over 1,000 genes may serve as possible treatment targets for individuals with kidney disease, according to a new study. By creating the most complete and detailed genetic 'map' of kidney function to ...