Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

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 ...

While most known types of DNA damage are fixed by our cells' in-house DNA repair mechanisms, some forms of DNA damage evade repair and can persist for many years, new research shows. This means that ...

Researchers have refined a powerful DNA sequencing tool that can uncover hidden mutations that occur naturally in our bodies as we age. In the largest study to date, they have used the tool to provide ...

Mutations in the tumor suppressor TP53 are a common cause of cancer, making the altered protein an attractive target for ...

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 ...

Characteristics of Clonal Hematopoiesis (CH) Mutations - a) We identified somatic mutations in known clonal hematopoiesis of indeterminate potential (CHIP) driver genes using peripheral blood ...