GGC Scientists Receive ‘Million Dollar Bike Ride’ Grant

GGC Scientists Receive ‘Million Dollar Bike Ride’ Grant

Scientists from the Greenwood Genetic Center (GGC) 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 (MDBR) 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 deserving scientists who are studying diseases for which money has been designated. In the first five years of the program, over 25 rare disease teams have raised over eight million dollars to fund research on the diseases they represent.

GGC’s Tim Wood, PhD and Rich Steet, PhD are co-investigators on the GGC project titled “Expanding the Breadth of Metabolite Analysis for Snyder-Robinson Syndrome.” The project will build upon GGC’s history and interest in this rare disorder by using novel technologies to identify biomarkers of the disease.

GGC researchers led by Charles Schwartz, PhD, Senior Research Scholar at GGC, identified the gene causing Snyder-Robinson syndrome (SRS) in 2003. SRS 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.

Since discovering the gene, GGC researchers have been working to understand how the syndrome impacts patients and how it can be better diagnosed and treated. Schwartz has been recognized by the Snyder-Robinson Foundation for his commitment to improving the lives of these patients. He also led a rare disease workshop in 2017 to bring together stakeholders including scientists, clinicians, families, and pharmaceutical companies, to discuss how to advance treatment.

“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, Director of GGC’s Biochemical Laboratory and the principal investigator on the grant. “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.”

“The Snyder-Robinson Foundation is thrilled that GGC has received a 2018 MDBR SRS research grant award,” said Katia Luedtke, Legal Counsel and Secretary of the SRS Foundation, and mother of Connor who was diagnosed with SRS at age 5.  “We are impressed by their dedication to SRS research and look forward to their further contributions to the understanding of SRS.”

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Photo Captions

·         MDBR group photo: Members of the Snyder Robinson Syndrome Foundation team at the Million Dollar Bike Ride in Philadelphia in June 2018.

·         TimWood: Tim Wood, PhD

·         Steet_Rich2: Rich Steet, PhD

About Greenwood Genetic Center 

The Greenwood Genetic Center (GGC), founded in 1974, is a nonprofit organization advancing the field of medical genetics and caring for families impacted by genetic disease and birth defects.  At its home campus in Greenwood, South Carolina, a talented team of physicians and scientists provides clinical genetic services, diagnostic laboratory testing, educational programs and resources, and research in the field of medical genetics.  GGC’s faculty and staff are committed to the goal of developing preventive and curative therapies for the individuals and families they serve.  GGC extends its reach as a resource to all residents of South Carolina with satellite offices in Charleston, Columbia, Florence and Greenville. The GGC Foundation provides philanthropic financial support for the mission of the Center. For more information about GGC or the GGC Foundation please visitwww.ggc.org.

About Dr. Robert Stevenson

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