Grant to Marcelo Coba Laboratory will support research into genetic underpinnings of SYNGAP1 Syndrome
If you’ve never heard of a genetic disease called SYNGAP1 Syndrome, you’re certainly not alone. The neurological disorder is considered rare, with only 762 confirmed cases globally, according to the #SyngapCensus. But epidemiologic studies suggest it’s more common than we know, with many more cases likely going undiagnosed or misdiagnosed.
Research by Marcelo Coba, an associate professor of psychiatry and the behavioral sciences in the KSOM, will help shed light on this disease, which is caused by a genetic alternation in the SYNGAP1 gene. This disorder, for which there is currently no cure, results in a variety of conditions, including intellectual disabilities, epilepsy, sleep disorders, impulsivity, and aggression.
Coba, whose laboratory is housed in the Zilkha Neurogenetic Institute, was recently awarded a $130,000 grant from the SynGAP Research Fund (SRF) to support a postdoctoral fellow position whose research will focus on deepening our understanding of SYNGAP1 Syndrome.
The funding will enable Coba’s team to develop a first-of-its-kind understanding of this disorder by characterizing and profiling the function of patient-derived cells. By culturing patient cells in the lab, Coba’s team will be able to analyze how they function and determine which cellular processes have gone awry at the single cell and organ levels. The goal is to uncover therapeutic targets that can restore function and offer treatment options for SYNGAP1 patients.
“Very little is known about the role of SYNGAP1 during neuronal development and the impact of SYNGAP1 mutations in classes of human neurons,” Coba said. “This award will allow us to start to address the role of SYNGAP1 in different types of human neurons and determine how mutations in SYNGAP1 impair human neuronal function with a cell-specific resolution. We expect that our results will inform on novel targets and treatment strategies for patients affected by mutations in SYNGAP1. We are indebted to SRF and the families of SYNGAP1 patients that make this study possible.”
This is the second time the Coba Lab has received support from SRF. The charity awarded $46,250 to Coba and stem cell researcher Giorgia Quadrato in 2020 to fund a multi electrode array for the analysis of brain organoids.
Led by parents of SYNGAP1 patients, SRF was founded to improve the quality of life of those diagnosed with the disease through the research and development of treatments, therapies and support systems. SRF is the largest non-government funder of SynGAP research, with over $1M in grants. The grant to the Coba Lab was made possible by a fundraising effort supported by dozens of families.
Michael Graglia, SRF managing director and a parent of a child with SYNGAP1, said: “Our community is lucky to have Dr. Coba concentrating on the study of SynGAP patients and devising experiments that will translate into therapies.”