Exploring mutations that spontaneously switch on a key brain cell receptor

Many people are familiar with histamine, a biological molecule that serves as a key driver of allergic reactions and other ...
Ars Technica

Mutations in a non-coding gene associated with intellectual disability

Almost 1,500 genes have been implicated in intellectual disabilities; yet for most people with such disabilities, genetic causes remain unknown. Perhaps this is in part because geneticists have been ...

Childhood deafness: Researchers identify over 200 mutations, including previously unknown variants

Deafness, the most common sensorineural hearing loss at all stages of life, occurs either independently or as part of syndromes associated with other symptoms, such as Usher syndrome type 1. In a ...
Science Daily

Mutations in noncoding DNA become functional in some cancer-driving genes

Despite progress in defining functional elements of noncoding DNA, it is still not fully understood. Researchers, using an experiment that elucidated the function of tens of thousands of noncoding ...