In 1963, researchers unearthed two Stone Age skeletons that were buried in an embraced position in a cave in Italy. Now, DNA testing has revealed that one of them had a rare genetic condition.

A mitochondrial DNA mutation passed down through the maternal line in some Venezuelan families has been linked to severe ...

Virginia Tech researchers discovered an indication hidden in the brain that may help doctors identify children suffering from ...

Etta Cartmill will receive a kidney transplant after already spending five weeks in the hospital following a liver transplant ...

A rare form of diabetes affecting newborn babies and caused by a genetic disorder has been discovered by scientists in the UK ...

When two defective gene variants combine, normal protein function can sometimes be restored.

When her newborn was diagnosed with Phenylketonuria (PKU), Jewelia Belcher tells PEOPLE it felt like her “world was crashing ...

In a small corner of Northern Ireland, a three year old girl is gearing up for her second major organ transplant before she ...

Pam Kowalcyzk and her daughter have PKU, a rare disorder that prevents the body from processing protein ...

Is Obesity Genetic or Environmental? Get All the Details This article was reviewed by Lynn Marie Morski, MD, JD. Key ...

Meet the luckiest people on Earth — individuals carrying a rare genetic mutation that prevents wrinkles from forming even as they age well into their 80s. These genetic lottery winners have provided ...