2 Main Research Laboratories
The Lipton Laboratory
Scripps Research Institute, CA
The Cowan Laboratory
Medical University of South Carolina
3 Key Areas of Research
MEF2C Activator Therapy
This research is led out of the Lipton Lab at Scripps where the goal of the research is to identify a compound that over stimulates the expression of MEF2C from the one functioning good copy of the gene.
Window of Opportunity for Treatment
The Cowan Laboratory developed a reversible MEF2C mutant mouse using the Cre Lox system. Cre Lox is a versatile genetic tool for use with Mice that allows researchers to generate tissue specific gene expression interruptions and restorations.
In this case MEF2C expression is inhibited during gestation resulting in MHS mice. The blocker can then be removed, restoring the mice to normal MEF2C levels. The research goal is to reactivate the MEF2C gene for several populations of mice and different stages of life and measure the level of rescue observed through behavioral testing. This will help determine the window of opportunity for treatment and applications for clinical trials in the future
AAV Therapy
The AAV research at MUSC has been able to demonstrate that a plasmid MEF2C DNA can be produced, packaged into an AAV and successfully delivered to the right cells in the brain of mice where MEF2C expression is required.