New Area: SYNGAP1 Research
Dr. Elizabeth Heller was recently awarded a research grant award from the SynGAP Research Fund to support her lab’s work in epigenetic regulation of SynGAP1-related intellectual disability. With the SynGAP Research Fund’s award to support a postdoctoral fellow in the lab, Dr. Heller and her team will work to uncover druggable targets that could be used to develop a treatment for this rare genetic disorder. Congratulations, Dr. Heller, and many thanks to the team at the SynGAP Research Fund!
SYNGAP1-related intellectual disability is a rare genetic disorder caused by a variation on the SYNGAP1 gene, with over 650 diagnosed patients accounted for globally. It leads to several neurological issues in patients, including mild-to-severe intellectual disability, epilepsy, autism, sleep issues, hypotonia (low muscle tone), apraxia (delayed/no speech), impulsivity & aggression.
Dr. Heller’s study will focus on investigating epigenetic mechanisms to help uncover druggable targets that can increase SynGAP expression from the “good” copy of the gene and be used to develop a treatment. The study will first uncover the cellular mechanisms that govern SYNGAP1 gene activation. Next, tools will be developed to artificially activate SYNGAP1 in the brain. The goal is to design a treatment intervention that is useful and effective at all stages of development, for all SYNGAP1 patients.