A Condition So Rare It Has No Name

August 11, 2017

A local group, the Bow Foundation, has donated $50,000 to help our Michael McConnell, PhD, research a genetic disorder so rare it has no common name. That’s the news hook, anyway. The condition actually may not be that rare. It’s just not well studied. Once researchers start investigating, it may turn out that many more people may have the disorder. That’s one of the tricky bits when it comes to research. Conditions that aren’t well known don’t attract the same interest or funding as conditions such as cancer or Alzheimer’s disease.

This particular disorder is caused by a mutation in the GNAO1 gene. Right now, approximately 50 children worldwide are know to have the mutation; about 20 have been diagnosed in the last year. The condition can manifest as movement disorders, seizures and/or severe developmental delays. The Bow Foundation was founded in April by two families who have children with the disorder.

McConnell, of our Department of Biochemistry and Molecular Genetics, aims to unlock the potential of stem cell therapy to treat genetic-based diseases. He takes tiny skin samples and creates pluripotent stem cells, which then can be turned into neurons for further study.

Let’s hope that his work can shed some light on this poorly understood condition, and that this seed funding from the Bow Foundation helps him attract more attention — and funding — to the cause.

 

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