Mutations are changes in the molecular 'letters' that make up the DNA code, the blueprint for all living cells. Some of these changes can have little effect, but others can lead to diseases, including ...

Identifying and classifying gene mutations - which are the permanent changes in a person's DNA genetic code - are critical in better understanding, and with research, eventually treating or preventing ...

DNA doesn’t just sit still inside our cells — it folds, loops, and rearranges in ways that shape how genes behave. Researchers have now mapped this hidden architecture in unprecedented detail, showing ...

Fourteen million people worldwide suffer from enlarged hearts, or hypertrophic cardiomyopathy (HCM), a genetic disease that thickens the heart's walls, making it harder for the organ to pump blood - ...

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, ...

New research finds that retinal diseases thought to map one-to-one to genetic mutations are more complicated than that.

A Mayo Clinic-led team of researchers is solving one of the most frustrating aspects of genetic cancer screening — results that give zero guidance to patients on whether they are at elevated risk.