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 ...

The analysis revealed that about 2 per cent of sperm from men in their early 30s contained disease-causing mutations. That ...

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 ...

Around 200 children in several countries were conceived with sperm from a single donor who unknowingly carried a rare genetic ...

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 ...

Before Todd Leach lost his father to a rare, aggressive form of stomach cancer, his dad gave him one last gift: a genetic ...

A vanishingly rare genetic glitch in a single enzyme can erase a newborn’s brain cells in a matter of weeks, leaving doctors ...

A microscopic flaw in the brain’s cellular scaffolding can shape brain size for life.

A treatment that is effective against hearing loss caused by the 'MPZL2 gene' mutation has been developed. A research team ...

July 11 -- THURSDAY, July 10 (HealthDay News) -- Common underlying mechanisms that affect brain development may be shared by the many seemingly disparate gene mutations found in autistic people, a new ...

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 ...