Dr. Rumbaugh has intensively studied Syngap1 over his long career. From a cellular perspective Syngap1 has two major biological functions: one in synapse function, and another in cellular morphogenesis (position and shape) . In Syngap1 Syndrome, both these functions are altered, changing how postsynaptic dendrites mature and also how neural circuits work. As a result patients have many symptoms, including changes in sensory processing and behaviors.
Dr. Rumbaugh developed a high-throughput screen to find drugs that upregulate Syngap1 expression. We are lucky that he has a position at Scripps in Jupiter, Florida, home of one of the biggest drug libraries in existence. While no drugs which directly upregulate Syngap1 expression have been found (to date), several drugs down-regulate expression. By following these leads, biological pathways can be found that might be modified by a drug, in order to increase the steady-state levels of Syngap1 protein. SRF is supporting some of Dr. Rumbaugh’s work with a full time three year postdoctoral fellow. #SRFRumbaugh Some of their work includes the development and sharing of a test to measure the level of Syngap1 protein. This assay will be useful to researchers working to increase the expression levels of Syngap1, which is the goal of all the therapeutics currently in development by various research and corporate groups.