In rare diseases, rare mutations have long been thought of as the only contributor. Genetic analyses of people with such conditions now suggest that the effects of common genetic variants can stack up ...

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 ...

A gene known as CTNNB1 encodes for a crucial protein called B-catenin, which has an important role in controlling tissue ...

Researchers from Brigham and Women's Hospital (BWH) and the University of Murcia, Spain, have shed new light on why people who carry a common genetic mutation may be more at risk for developing type 2 ...

"During National Cancer Prevention Month, I hope other men can learn from my experience." ...

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 ...

Many human diseases have a genetic component to them. There are over 6,000 genetic disorders, many of which are fatal or severely debilitating. A genetic disease is caused by a mutation in DNA and can ...

This photo provided by Emilys Entourage in April 2025 shows Emily Kramer-Golinkoff, who has cystic fibrosis caused by a rare genetic mutation, during a trip to Maine. (Emilys Entourage via AP) ...