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

A single microscopic change in our DNA can permanently alter how the brain is built, locking in developmental problems that ...

Concern surrounding the highly pathogenic avian influenza H5N1 influenza virus currently circulating in dairy cows in the United States is growing. A total of 58 human cases have been reported as of ...

Scientists have revealed parts of the genome that are especially vulnerable to mutations that occur very early on in development. These areas are in the initial portions of genes, where the cell tends ...

This study offers important insight into the pathogenic basis of intragenic frameshift deletions in the carboxy-terminal domain of MECP2, which account for some Rett syndrome cases, yet similar ...

Unique mutations in the H5N1 strain enhance replication in human cells and cause severe disease in mice. The virus has spread from birds to mammals, including dairy cows, and infected humans, with one ...

A new study has raised alarm bells about the potential for the H5N1 bird flu virus to evolve into a strain sparking a human pandemic. A single mutation in the virus currently ravaging dairy farms ...

Helen Branswell covers issues broadly related to infectious diseases, including outbreaks, preparedness, research, and vaccine development. Follow her on Mastodon and Bluesky. You can reach Helen on ...

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

Most mutations that cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a major study of human protein variants that was published in Nature ...

Researchers have discovered new regions of the human genome particularly vulnerable to mutations. These altered stretches of DNA can be passed down to future generations and are important for how we ...