Use of computational and phenotypic discovery platforms to perform high-throughput and functional screening from a library of compounds with a focus on FDA approved drugs.

MEF2C Activator Therapy - The goal of this research is to identify a compound that over stimulates the expression of MEF2C from the one functioning good copy of the gene.

ASO Therapy -This RNA based approach is used to limit the ability of cell machinery to reduce MEF2C levels. ASOs (antisense-oligonucleotides) are RNA molecules that inhibit protein synthesis. They can be used to target any gene by selecting the correct nucleotide sequence in the target RNA.

AAV Therapy - AAV research 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.

There are different types of mutations that could have differing mechanisms of action. It is important to provide research and development opportunities to determine if different types of treatments are needed within our patient group.

One attempt made to understand the window of opportunity for therapeutic intervention is coming from the Cowan Laboratory, they developed a reversible MEF2C mutant mouse using the Cre Lox system. There is a need to support further investigations in this area.