More people are turning to genetic counseling to understand their DNA and assess their risk for certain diseases. As part of ...

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 ...

An HIV-derived nucleoside therapy now treats rare genetic diseases by restoring mitochondrial DNA and improving muscle ...

Genetic variants can take many different forms. For example, a single letter of the DNA alphabet might be miscopied, like a typo; or whole words, sentences or even chapters can be deleted or inserted ...

A recent study finds that certain psychiatric disorders have considerable genetic overlap. But these genes aren’t the whole story; you have a say in what they do.

"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...

A massive global genetics study is reshaping how we understand mental illness—and why diagnoses so often pile up. By ...

A new "proteomic" blood test can accurately screen a newborn's DNA for thousands of rare, inherited diseases by analyzing just a single-milliliter sample, according to a study to be presented Monday.

A rare cause of hereditary cognitive decline known as CSF1R-Related Disorder (CSF1R-RD) gets its name from mutations in the CSF1R gene, discovered by Mayo Clinic. Memory loss occurs as the condition ...

The American Society for Reproductive Medicine published a report that concludes preimplantation genetic testing for ...