Record Drug Development May Save Girl From Fatal Brain Disease

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Growing up in Colorado, 6-year-old Mila Makovec was a bright, active child. However, her parents became concerned as Mila developed increased difficulty walking and speaking, and her vision started to fade. In December of 2016, doctors diagnosed Mila with Batten Disease, an inherited neurodegenerative disorder. The prognosis is fatal.

However, her story appears to have a happy ending. Science reports that yesterday in San Diego, at the annual meeting of The American Society of Human Genetics, researchers recounted how in less than a year, they developed a synthetic RNA molecule that helps her cells ignore her genetic flaw to build a needed protein, and have appeared to halt the condition’s progression.

“It’s very exciting,” said gene therapy researcher Steven Gray of the University of Texas Southwestern Medical Center after seeing the presentation. “There couldn’t be a stronger example of how personalized medicine might work in practice.”

The first step for Mila’s doctors in Colorado was to sequence the protein-coding part of her genome. They found an error in one copy of a single gene that codes for a protein that helps molecules move through the membrane of lysosomes, which are enzyme-filled sacs inside of cells that clear waste molecules. In Batten Disease, the waste that builds up in cells due to this malfunction causes damage to neural cells, leading to damage to the central nervous system and ultimately death.

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