The Michigan State University College of Human Medicine is working to raise awareness of an often hidden gene mutation that's ...

A systematic review of 52 scientific papers submitted to a world-leading clinical genetics journal from multiple scientists ...

So it would seem helpful that new research on autism has just discovered a possible genetic link -- an alteration near a gene called semaphorin 5A, which is thought to guide the growth of brain-cell ...

A newly discovered genetic mutation unique to humans may help explain why we are significantly more vulnerable to cancer than our closest evolutionary relatives. Researchers at the University of ...

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 ...

Scientists showed that a mutation in animals that live at high altitude promotes myelin regeneration, informing potential new ...

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

Researchers use long-read genome sequencing to discover 33% more structural variants and 38% more tandem repeats linked to autism spectrum disorder.

The discovery could open up new ways for treating diseases such as MS by leveraging molecules that are already present in the ...

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 ...

Scientists have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells. The findings change the understanding ...

A new method for safely inserting large chunks of DNA into genomes has now measured up in mice, potentially paving the way ...