GGC Researchers Honored by Snyder-Robinson Foundation

GGC Researchers Honored by Snyder-Robinson Foundation

The Greenwood Genetic Center’s Dr. Roger Stevenson and Dr. Charles Schwartz, were honored at the first Snyder-Robinson Syndrome Conference
in Arlington, Virginia last week. The Snyder Robinson Foundation presented the award to Stevenson, GGC co-founder, and Schwartz, GGC’s Director
of Research, in special recognition of their research and work with Snyder-Robinson syndrome.

Snyder-Robinson syndrome leads to low muscle mass, orthopedic abnormalities, facial asymmetry and intellectual disability in affected individuals. To date, only 11 patients worldwide have been identified. Drs. Snyder and Robinson first described the X-linked condition in 1969. Schwartz and Stevenson further delineated the syndrome in 1996 and identified the gene responsible in 2003. More recently, the Center has been studying the biochemical changes that occur in these patients as a precursor for developing an effective therapy. Drs. Schwartz and Stevenson shared GGC research updates and participated in a discussion on clinical trials with the scientists and families who gathered for the conference.

“The Snyder-Robinson Foundation has done extraordinary things to mobilize families from around the world who are impacted by this rare condition,” shared Schwartz. “They have wholeheartedly supported our work at GGC to better understand this disorder, and we share their passion for finding a treatment and eventual cure.”

Photo Caption 1: Stevenson, right and Schwartz, left, accept the special recognition award from Frank Marchetti of the Snyder-Robinson Foundation and his son, Antonio.

About the Snyder-Robinson Foundation:
The Snyder-Robinson Foundation is a 501(c)(3) tax-exempt organization formed to advance medical and scientific research related to Snyder- Robinson Syndrome (“SRS”), to support medical treatment and therapies for individuals with SRS, and for related charitable and educational purposes.

Meet Ella

We will remember February 26th for the rest of our lives. On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome. Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with LEARN MORE

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