New research finds that retinal diseases thought to map one-to-one to genetic mutations are more complicated than that.

A study suggests overactive VCP may contribute to ALS nerve damage by disrupting nuclear pore proteins in genetic ALS.

A man sits outside and holds a slim menthol cigarette between his fingers. Close-up with focus on the cigarette. The study provided a comprehensive examination of how lifestyle and environmental ...

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 led by Aaron Hobbs, Ph.D., and Rachel Burge, Ph.D., at MUSC Hollings Cancer Center, reveals why a specific gene ...

Traditional biochemical methods of studying human gene mutations are often laborious and costly. Now bioengineers at the University of California San Diego have developed a new simple approach to ...

A genetic mutation passed from mother to children in families affected by schizophrenia has now been shown to completely silence a brain receptor that pharmaceutical companies are racing to target ...

Human cells usually contain two copies of most genes, one of which comes from the mother while the other comes from the father. It's long been thought that usually these two copies, or alleles of ...

Humanized mouse models are essential for investigating human gene function; however, the complete replacement of mouse genes ...

Sperm from a single donor in Europe has reportedly been used to conceive at least 67 pregnancies, although the donor carried a rare cancer-causing mutation. The donor’s mutation has been linked to ...