GGC Scientists Receive 'Million Dollar Bike Ride' Grant

01.31.19
GGC Scientists Receive 'Million Dollar Bike Ride' Grant

Greenwood, SC  – 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.”

 

Photo: Members of the Snyder Robinson Syndrome Foundation team at the Million Dollar Bike Ride in Philadelphia in June 2018. 

Meet Makayla Gunn

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two. At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words. She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it. Then she suddenly stopped all of that. At her 2 year old check-up, the pediatrician referred us to BabyNet, SC’s early interve...

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