ScienceAlert on MSN

This rare genetic mutation kills brain cells, and we finally know why

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

The rare genetic mutation that prevents wrinkles

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 ...
Los Angeles Times

Genetic medicine can leave people with rare mutations behind. But there’s new hope

Emily Kramer-Golinkoff can’t get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like walking or showering arduous and exhausting. She has the most common fatal ...
WebMD

MTHFR Gene Mutation: Tests, Symptoms, and Treatment

What Is the MTHFR Gene Mutation? The MTHFR gene mutation is a variation in the MTHFR gene. This gene normally tells your body how to make the MTHFR protein. You need this protein to process folate, ...
GEN

Alzheimer’s APOE4-Linked Pathology May Be Reduced by APOE-R136S Mutation

Scientists at the Gladstone Institutes report that a rare genetic variant, known as the “Christchurch mutation,” can block detrimental effects of apolipoprotein E4 (APOE), the best-established risk ...

Landmark Study Shows Combination of Castle Biosciences' DecisionDx®-UM and PRAME Outperforms Gene Mutation Analysis in Predicting Survival Outcomes in Uv…

Castle Biosciences, Inc. (Nasdaq: CSTL), a company improving health through innovative tests that guide patient care, today ...