This study offers important insight into the pathogenic basis of intragenic frameshift deletions in the carboxy-terminal domain of MECP2, which account for some Rett syndrome cases, yet similar ...

Scientists at La Jolla Institute for Immunology (LJI) have discovered how a mutated gene kicks off a dangerous chain of events during blood cell production. "We know that many diseases—and all cancers ...

Mount Sinai scientists developed V2P, a powerful new AI tool that predicts how specific DNA mutations translate into disease, unlocking faster diagnoses and new targets for therapy.

Bowel cancer cells have the ability to regulate their growth using a genetic on-off switch to maximize their chances of survival, a phenomenon that's been observed for the first time by researchers at ...

Bethany Oeming has often fielded questions from people wondering what the secret was to her muscular body. At 36, when she was pregnant with her second child, she was diagnosed with a rare genetic ...

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism ...

A new study has punctured a longstanding assumption about the source of the most common type of DNA mutation seen in the genome--one that contributes to many genetic diseases, including cancer. A ...

Australian researchers have discovered that a single mutation in the DNA sequence for a methylation enzyme dysregulates key tumor-suppressing pathways, opening up new avenues for blood cancer ...

Ever looked in the mirror and wondered why you’ve got those tiny cheek holes or why you can see colors your friends can’t? It ...

Researchers linked users to a higher rate of skin cell mutation, especially in places usually protected from sun exposure.