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Local nonprofit funding research on rare genetic disease

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Thursday, August 10, 2017

A local charity is helping the University of Virginia School of Medicine research a rare disease that has no common name.

According to a release, the study will be looking at GNAO1 gene mutations, under the leadership of Michael McConnell, PhD.

About 50 children across the world are impacted by the disorder, suffering symptoms such as severe developmental delays, seizures and movement disorders.

"We are honored and excited to be able to support this great project at the University of Virginia," said Bow Foundation Co-Chairs, Emily Bell and Alice Fox. "Dr. McConnell's research will help pave the way to a brighter future for children like ours who are impacted by the GNAO1 disorder."

The work will focus on unlocking a potential for stem cell therapy to deliver care for patients with genetic-based diseases.

McConnell uses a technique with tiny skin samples and creates pluripotent stem cells, which can then develop into neurons for later study.

"I'm thrilled that we are able to team with the Bow Foundation to do this important work. Scientists using pluripotent stem cells have made a number of exciting new discoveries in neurological disorders over the past few years," McConnell said. "GNAO1 patient advocacy has been essential to bringing cutting-edge science to this rare disorder."

The Bow Foundation was launched in April 2017 to support GNAO1 patients through enhanced research and increased awareness. The nonprofit organization is located in Charlottesville.

Source: CBS19 News
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