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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

Pig Organ Transplants Considered

The Wall Street Journal reports that the US Food and Drug Administration may soon allow clinical trials that involve transplanting pig organs into humans.

'Poo-Bank' Proposal

Harvard Medical School researchers suggest people should bank stool samples when they are young to transplant when they later develop age-related diseases.

Spurred to Develop Again

New Scientist reports that researchers may have uncovered why about 60 percent of in vitro fertilization embryos stop developing.

Science Papers Examine Breast Milk Cell Populations, Cerebral Cortex Cellular Diversity, Micronesia Population History

In Science this week: unique cell populations found within breast milk, 100 transcriptionally distinct cell populations uncovered in the cerebral cortex, and more.