The SynGAP Research Fund (SRF) awarded a $128,000 grant to Joseph Anderson, PhD, associate director of the University of California-Davis Gene Therapy Center and associate professor at UC-Davis. Based on the study “Functional rescue in an Angelman syndrome model following treatment with lentivector transduced hematopoietic stem cells” in Human Molecular Genetics, Anderson will test the same approach in an animal model of SYNGAP1 and evaluate for functional rescue of related phenotypes.
SYNGAP1-related intellectual disability is a rare genetic disorder caused by a variation on the SYNGAP1 gene, with over 1,000 diagnosed patients accounted for globally as of March 2022. It leads to several neurological issues in patients, including intellectual disability, epilepsy, autism, sleep challenges, gastro-intestinal and feeding problems, hypotonia (low muscle tone), apraxia (delayed/no speech), impulsivity and aggression.
“For our current research, we will be evaluating whether a hematopoietic stem cell gene therapy approach is effective in rescuing phenotypes observed in an animal model of SYNGAP1,” says Anderson. “Based on the results we observed in our project for Angelman Syndrome, we are excited to apply this strategy to SynGAP as well.
“In our current proposal, we will be gene modifying blood-forming stem cells with a vector that expresses wild type and functional SYNGAP1. These cells will be transplanted in an animal model of SynGAP and be evaluated for rescue of SynGAP-related phenotypes.
“We will also be evaluating whether successful expression of SYNGAP1 can be detected in the brains of the transplanted animals. This work, if successful, will bring this therapeutic strategy closer to a clinical trial. We are currently evaluating a similar strategy for the treatment of other neurodevelopmental disorders.”
According to Michael Graglia, managing director of SRF, the fund closely watches leading rare disease groups to identify opportunities to help individuals with the genetic disorder.