Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

Genetic variants believed to cause blindness in nearly everyone who carries them actually lead to vision loss less than 30% ...

At the genomic level, the researchers identified over 100 regions of the genome where genetic variants influence multiple disorders simultaneously. One region on chromosome 11 stood out as a "hotspot, ...

For decades, diagnosing a mental illness has depended largely on symptoms and clinical observation rather than lab tests. Yet ...

Researchers have identified nearly 300 genetic disorders that can be treated before or immediately after a baby is born. This 'treatable fetal findings list' could improve the diagnosis of genetic ...

A massive global genetics study is reshaping how we understand mental illness—and why diagnoses so often pile up. By analyzing genetic data from more than six million people, researchers uncovered ...

Researchers have uncovered shared genetic pathways that link multiple psychiatric disorders. These new findings have the potential to change the way psychiatric disorders are diagnosed and treated, ...

As newborn screening and rapid DNA sequencing become routine, we are poised to catch and treat inherited diseases at their earliest stages. Today, we can intervene in the first days or weeks of life.

Scientists discovered that aging DNA repeats expand at wildly different speeds—and in some people, the consequences can be devastating. A sweeping genetic study drawing on data from more than 900,000 ...