Autism spectrum disorder (ASD) is associated with more than 1,200 risk genes, raising a fundamental question: Do these ...

Different gene mutations may determine the severity of male infertility and influence reproductive options. Read more.

In simple terms: a mutation is a stable change in genetic sequence that can be copied when cells or viruses replicate. Most mutations have no detectable effect, some contribute to disease, and a small ...

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 ...

From the time we are conceived and through old age, genetic mutations accumulate in all our tissues, eluding the body’s typically efficient DNA repair machinery and potentially affecting our health ...

A new study headed by teams at the Wellcome Sanger Institute, EMBL’s European Bioinformatics Institute (EMBL-EBI), and Open Targets has indicated how mutations that cause cancer drug resistance fall ...

When a patient's DNA is read, it is compared with a reference version of the human genome. This allows geneticists and rare disease experts to look at a list of places where the patient's DNA differs.

A study demonstrates that the 'previous state' of blood stem cells plays a decisive role in the subtype of leukemia that develops. The new technique, called STRACK, allows monitoring of the evolution ...

A genetic mutation that raises lung cancer risk was much more common among those born in Southeastern states than elsewhere in the U.S.

Mutations are changes in the molecular "letters" that make up DNA, the genetic blueprint for cells. Mutations build up with ...