Researchers led by Leslie Biesecker at the National Human Genome Research Institute found that Proteus syndrome results from a mutation in AKT1 that appears as a mosaic throughout the affected person's tissues. The condition is characterized by skin overgrowth and abnormal bone development. As they report in the New England Journal of Medicine, the researchers conducted exome sequencing of tissues from people with Proteus syndrome and found that 90 percent of the patients had a somatic AKT1 mutation.

To read the full story....

Register for Free.

...and receive Daily News bulletins.

Already have an account?
Login Now.

Science speaks with the University of Michigan's Jedidiah Carlson, who has tracked population genetic discussions at white nationalist sites.

Gene therapies could qualify for a faster US Food and Drug Administration approval process, according to Stat News.

NPR reports that the US House of Representatives has passed a bill to enable terminally ill patients access to experimental drugs.

In Genome Research this week: inversion variants mapped in human, non-human primate genomes; transcriptome profiling of maize, sorghum; and more.