Since 2003, researchers have noticed that scientists tend to study the same genes, over and over. And the genes that become popular aren't necessarily the most interesting ones, they say. It may be decades before all the genes are studied.
An analysis of nearly 4,000 mutations deliberately engineered into the BRCA1 gene will immediately benefit people undergoing genetic testing for breast or ovarian cancer risk.
Advances in genetic testing offer new insights to parents who have a child with a rare but serious form of epilepsy, epileptic encephalopathy (EE), found in one of about every 2,000 births and characterized by developmental disabilities as well