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, ...
A new single-cell profiling technique has mapped pre-malignant gene mutations and their effects in solid tissues for the ...
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 ...
Rett syndrome is a rare developmental disorder, most often due to a mutation in the MECP2 gene on the X chromosome, but it’s not usually inherited. Advances in genetics have launched a new era in ...
Santhosh Girirajan receives funding from the National Institutes of Health. Genetic inheritance may sound straightforward: One gene causes one trait or a specific illness. When doctors use genetics, ...
The donor's sperm carried a mutation that causes Li-Fraumeni syndrome or LFS, one of the most severe inherited cancer predisposition syndromes. A recent case in Europe has reignited debate over the ...