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

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.

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

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

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

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

A landmark study led by researchers with the Department of Veterans Affairs has uncovered new genetic insights into ...

For over a hundred years, scientists have puzzled over why most orange cats are male—now, a study may have cracked the genetic code.

Small changes in genes can make us unique, and they can also have biological effects. Scientists have identified a genetic mutation in a gene called SMIM1 that encodes for a blood group called Vel, ...

From horns to conjoined heads and super-flexible skin, these rare genetic conditions challenge belief.

CNBC’s Becky Quick recently opened up about her 9-year-old daughter Kaylie’s private battle with a rare genetic disorder. In an interview with People, published on Thursday, January 8, Quick, 53, ...

Domestic cats are some of the most beloved pets in the world. Their mysterious nature, grace and unique character make them special human companions. However, for these pets to remain healthy and live ...