US MEF2C Foundation

Our Mission is to accelerate research and development to find treatments and a cure for individuals with MEF2C Related Syndrome caused by pathogenic mutations on the MEF2C gene; to connect families with information and support that will enhance the care of patients and families; to connect researchers by creating opportunities for collaboration within the scientific community.

We are supporting the following critical areas of research to find treatments and a cure for MEF2C Related Syndrome:
1) The development of a robust natural history of our patients to include clearly defined phenotypes by variant. Our study aims to identify biomarkers, and objective endpoints, to inform efficacy of treatments; to carefully define phenotypes with the goal to better understand phenotypes and variant diversity within our gene group; to consider distinct genetic changes that give rise to diverse symptoms; and to emphasize endpoints by fortifying patient assessments relevant to carefully defined phenotypes.
2) The creation and investigation of different variants in mouse models and hiPSCs to better understand mechanisms and pathways of MEF2C pathogenic variants.
3) To target key symptoms of MEF2C Related Syndrome through drug discovery and development.
4) To investigate strategies to normalize MEF2C concentration in critical cells within the brain.