The National Institutes of Health initiative that aims to make human genome research more inclusive reports its first results. Some 275 million new genetic variations have been identified.
Researchers have identified 46 genes that can disrupt a process that is critical to early brain development. The finding could help scientists find new treatments for disorders including autism.
Researchers have long hoped to find out if genes contribute to sexual orientation. A new study of genetic data from thousands of people hints there may be some link, but it's still far from clear.
Studies on the genetics of human diseases have focused largely on people of European descent. Researchers say this lack of diversity is bad science and exacerbates health inequities.
After decades of hope and disappointment, doctors have now been able to treat several different types of genetic conditions by giving each patient a healthy version of their defective gene.
Sonia Vallabh knows that by the time she's middle-aged, a rare inherited disease will likely start killing off her brain cells. She and her husband have become scientists to try to stop the disease.
They couldn't figure out why so many relatives got Alzheimer's in their 40s. Then they found out they share the rare Jalisco mutation. Their tragedy is helping scientists untangle the disease.
Scientists are finally beginning to understand proprioception, a sense that tells us where our body is in space. Much of what they've learned comes from two girls with a rare genetic disorder.