A four-week old baby is one of just 23 to have been diagnosed with a deadly genetic disease so rare that it has no name.

UCSF researchers found that brain cells age more quickly when they rely solely on the X chromosome inherited from a female's ...

During a routine test, Johnny's middle school nurse discovered his severe scoliosis, a prevalent symptom of Marfan. This unexpectedly set his family on a path to uncover his underlying diagnosis at ...

Deciding to start a family is a big decision for any couple, but it’s even more nerve-wracking when the mom-to-be has a ...

Their findings, published in Nature Aging, describe a never-before-seen link between the two most accepted explanations: random genetic mutations and predictable epigenetic modifications.

Germline mutations in the TP53 gene are uncommon and associated with a specific cancer syndrome known as Li-Fraumeni syndrome. People with Li-Fraumeni syndrome often develop cancer as children or ...

Your body is a collection of cells carrying thousands of genetic mistakes accrued over a lifetime—many harmless, some bad and at least a few that may be good for you ...

Even though a large proportion of cancer patients carry genetic mutations that make them more susceptible to cancer, only a small percentage of them — and their family members — undergo ...

Genes play a role in our likelihood of developing depression, and one of the most extensive studies of its kind has now been able to link 293 previously unknown genetic variations to the devastating ...