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Greenwood scientists get research grant

Staff Report //February 1, 2019//

Greenwood scientists get research grant

Staff Report //February 1, 2019//

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Scientists from the Greenwood Genetic Center have received a one-year grant of $54,000 for rare disease research from the Million Dollar Bike Ride program managed through the University of Pennsylvania.

The Million Dollar Bike Ride brings together cyclists, volunteers and rare disease advocates to raise funds through pledges and corporate donations. The Penn Medicine Orphan Disease Center disperses that funding to scientists. In the first five years of the program, more than 25 rare disease teams have raised more than $8 million to fund research on the diseases they represent, according to a news release.

Researchers Tim Wood and Rich Steet are co-investigators on a project studying Snyder-Robinson Syndrome. Genetic center researchers, led by Charles Schwartz, identified the gene causing Snyder-Robinson syndrome in 2003. It is a rare genetic disorder affecting only males. It causes intellectual disability, muscle and bone abnormalities, distinctive facial features, and occasionally seizures and kidney issues, the release said.

“Rare diseases can often be very difficult to diagnose, leaving the families struggling for an answer and unsure how to best manage and care for their loved one,” said Wood, who is director of the genetic center’s biochemical laboratory, in the release. “This project will allow us to develop an analytical pipeline to study patient samples, as well as a novel technology, metabolomics, to try and find unique biomarkers for Snyder-Robinson syndrome that will allow us to speed the diagnosis and find potential targets for treatment.”

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