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Behind Proteus Syndrome

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. "We now have a better chance of making or finding a drug that can arrest this overgrowth and begin to use it early on in the disease progression," Biesecker says in a statement. The researchers also plan to test Joseph Merrick, who made a living in the late 1800s as the "Elephant Man", to determine whether he had Proteus syndrome.

The Scan

Could Cost Billions

NBC News reports that the new Alzheimer's disease drug from Biogen could cost Medicare in the US billions of dollars.

Not Quite Sent

The Biden Administration likely won't meet its goal of sending 80 million SARS-CoV-2 vaccine doses abroad by the end of the month, according to the Washington Post.

DTC Regulation Proposals

A new report calls on UK policymakers to review direct-to-consumer genetic testing regulations, the Independent reports.

PNAS Papers on Mosquito MicroRNAs, Acute Kidney Injury, Trichothiodystrophy

In PNAS this week: microRNAs involved in Aedes aegypti reproduction, proximal tubule cell response to kidney injury, and more.