Cystic fibrosis represents one of the most common inherited genetic disorders affecting people of European descent, touching the lives of approximately 30,000 individuals in the United States alone.

Although the genetic cause of many diseases have been identified, it’s estimated that as many as 70% of patients with a rare disorder do not know what causes their disease. Millions of people live ...

Deafness, the most common sensorineural hearing loss at all stages of life, occurs either independently or as part of ...

The genetic mutations that have been studied the most are those that have been linked to human disease, but what about mutations that provide some benefit? Researchers have now identified mutations ...

All people have two copies of every gene – one copy inherited from each parent. The NF1 gene mutation is dominant, which means that only one of the two copies of the gene needs to have the mutation to ...

The roots of cancer run deep. Indeed, they’re usually assumed to run all the way to the blighted bits of DNA we call oncogenic mutations. But what if they don’t have to run quite that deep? What if ...