A new statistical framework could speed up the search for rare mutations that cause common diseases, helping researchers zero ...

Hundreds of genes have been linked to autism, yet the precise molecular and cellular mechanisms behind it remain largely ...

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 ...

Researchers have found that DNA mutations could be responsible for increasingly stubborn and hard-to-control rodent populations ...

A team of researchers at VCU Massey Comprehensive Cancer Center has identified a new pathway through which mutations in the tumor suppressor p53 gene—found very frequently in human tumors—hijack DNA ...

Using the gene scissors CRISPR and stem cells, researchers at Stockholm University and the UK Dementia Research Institute (UK DRI) at King's College London have managed to identify a common ...

Growing evidence suggests that factors beyond the primary mutation play a greater role in rare monogenic conditions than previously recognized 1,2. Monogenic diseases are classically defined by single ...

A study found that 84% of house mice sampled from urban areas in the Northeast carried at least one genetic mutation linked ...

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 - ...