Science

Scientists Discover Potential Cure for Down Syndrome

Future parents with Down Syndrome babies might be able to reverse the effects thanks to scientists at Johns Hopkins:

U.S. researchers said Wednesday they have found a way to reverse Down syndrome in newborn lab mice by injecting an experimental compound that causes the brain to grow normally.

While the study in the journal Science Translational Medicine offers no direct link to a treatment for humans, researchers are hopeful it may someday offer a path toward future breakthroughs.

There is no cure for Down syndrome, which is caused by the presence of an additional chromosome, leading to extra copies of more than 300 genes and causing intellectual disabilities, distinctive facial features and sometimes other health problems.

The team at Johns Hopkins University used lab mice that were genetically engineered to have extra copies of about half the genes found on human chromosome 21, leading to Down syndrome-like conditions such as smaller brains and difficulty learning to navigate a maze.

On the day the mice were born, scientists injected them with a small molecule known as a sonic hedgehog pathway agonist.

The compound, which has not been proven safe for use in human, is designed to boost normal growth of the brain and body via a gene known as SHH.

The gene provides instructions for making a protein called sonic hedgehog, which is essential for development.

It’s basically another step toward a real life Flowers for Algernon without the (spoiler!) backslide. Also, there’s seriously a protein called “sonic hedgehog?”