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

Cancer cells carry thousands of mutations, but not all mutations are created equal. Some make tumors highly visible to the ...

After decades of fixating on mutations in nuclear DNA as the prime suspects in cancer development, researchers are increasingly peering into the cell’s powerhouse for clues. Mutations in mitochondrial ...

From the time we are conceived and through old age, genetic mutations accumulate in all our tissues, eluding the body’s typically efficient DNA repair machinery and potentially affecting our health ...

Gene-editing tools like CRISPR have unlocked new treatments for previously uncurable diseases. Now, researchers at the University of British Columbia are extending those possibilities to the skin for ...

Hypermobile Ehlers–Danlos syndrome (hEDS) is one of the most common heritable connective tissue disorders. Early estimates have reported that this genetic disorder affects at least one in 5,000 ...

Circulating tumor DNA (ctDNA), small pieces of DNA released from dying tumor cells into the bloodstream, can be easily and non-invasively identified and examined through a simple blood test. This ...

The DNA of Chernobyl cleanup workers showed mutations caused by radiation that were also evident in the genes of their ...

UCLA Health researchers have created a comprehensive map showing how eight different genetic mutations associated with autism spectrum disorder affect early brain development, providing new insights ...

A man sits outside and holds a slim menthol cigarette between his fingers. Close-up with focus on the cigarette. The study provided a comprehensive examination of how lifestyle and environmental ...

A Florida state legislator sponsored the nation's first state-backed genetic screening program after his son died from a rare genetic disease.