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

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 ...

Our understanding of mental illness is undergoing a major evolution, driven by recent advances in genetics. Rather than focusing solely on symptoms observed in consultation, research is ...

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 ...

"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 ...

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

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.

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 ...

General introduction to the estimation of genetic risks -- Mendelian risk -- Risk modified by reproductive history -- Risk based upon phenotype -- Risk based upon genotype -- Familial versus new ...