Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide.

Understanding the genetic diversity within and between populations has important implications for studies of human disease and evolution.

A large survey of human genetic variation, published today in the online version of the journal Science, shows that rare genetic variants are not so rare after all and offers insights into human diseases.

Excess sun exposure, a diet rich in fish, and gene inheritance from ancient explorers and traders, are all possible theories why some dark-skinned indigenous Solomon Islanders are naturally blonde, according to new research published today in the journal Science.

A new approach to investigating hard-to-find chromosomal abnormalities has identified 33 genes associated with autism and related disorders, 22 for the first time.