In 2003, Dr. Charles Schwartz, then director of research at the Greenwood Genetic Center, and his team discovered the gene causing Snyder-Robinson syndrome — an inherited condition that causes decreased muscle tone, developmental delay, intellectual disability, seizures and orthopedic problems.
In 1991, he and Dr. Roger E. Stevenson, senior clinical geneticist at the Greenwood Genetic Center, met the original family Drs. Russell Snyder and Charles Robinson described as the first case of Snyder-Robinson syndrome in 1969. From there, the two men, along with Dr. Tony Pegg, an Evan Pugh professor of cellular and molecular physiology emeritus at Pennsylvania State University College of Medicine, discovered that a defect in Spermine Synthase resulted in Snyder-Robinson syndrome.
Although Schwartz and Stevenson found the gene that caused the syndrome, they gave credit to the Snyder and Robinson who originally described it.
“We are standing on the shoulders of them. If they hadn’t published the family then the condition would have gone unrecognized,” Schwartz said. “It means a lot to have a name associated with a family.”
Schwartz retired from the GGC in 2018, but his findings led to a close relationship with the Snyder-Robinson Foundation — a nonprofit formed in 2014 by the parents of children diagnosed with Snyder-Robinson syndrome whose mission is to further knowledge about the condition.
Schwartz’s relationship with the foundation led to him being honored by them in 2015 for his commitment to improving the lives of Snyder-Robinson syndrome patients, and him serving as chairman for the foundation’s Medical and Scientific Advisory Board.
Nearly two decades after finding the gene that causes Snyder-Robinson syndrome, Schwartz continues to try to find treatments for the condition, and the Snyder-Robinson Foundation’s recent grant from the Chan Zuckerberg Initiative may be a vital step forward in helping treat SRS patients.
The Chan Zuckerberg Initiative was founded by Dr. Priscilla Chan and Facebook CEO Mark Zuckerberg in 2015. As a part of the initiative’s Rare As One Project, $13.5 million in funding will be dispersed to 30 patient-led organizations that are working to find treatments and cures for rare diseases.
The Snyder-Robinson Foundation was selected as one of the 30 organizations and will receive a $450,000 grant over two years, resources, training, community mentorship and capacity-building services.
“It’s a good building block for the foundation to try to pursue and involve other scientists trying to find a cure for the syndrome, which might help the current patients, and if not the current, it might help the future patients,” Schwartz said.
Worldwide, there are probably 20 patients with the deficiency, Schwartz added.
“The goal is to try to come up with a treatment that lessens the severity of the disorder to the patient,” he said.