The MEF2C Foundation, in partnership with the Medical University of South Carolina (MUSC), is thrilled to announce the launch of Pathways To Hope For MEF2C Haploinsufficiency Syndrome, a multi-year program aimed at developing therapeutics specifically targeting MEF2C Haploinsufficiency Syndrome (MCHS). This intensive research program, which will use cutting-edge technology to fast track the development of at least one therapeutic from discovery to preclinical readiness, marks the first targeted investment in therapeutics for the MCHS community, which encompasses at least 400 diagnosed children and young adults.

Pathways to Hope will be spearheaded by Dr. Christopher Cowan, Ph.D., head of the Department of Neuroscience, and the Cowan Laboratory at MUSC, who have been researching the gene for more than 20 years. With numerous high-impact publications on the subject, Dr. Cowan and his team are leading experts in the study of MEF2C. Pathways to Hope breaks new ground for the Cowan Lab, enabling a dedicated team to turn their expertise into tangible relief for hundreds of MHS patients through therapeutics that can alleviate if not rescue the symptoms of this life-altering rare disease.

Dr. Cowan said he’s grateful for the partnership, as its shared vision specifically focuses on restoring MEF2C expression. “That could address the full constellation of MCHS symptoms, including but not limited to autism. Our laboratory seeks to understand how factors like MEF2C support typical brain circuit function. Our research targets repairing those circuits, which could dramatically improve the quality of life for patients and their families far and wide.”

Pathways to Hope also marks the first major therapeutic development project undertaken by the MEF2C Foundation, a UK based foundation leading research efforts to benefit the MEF2C community, chaired by James Kelly, and after nine months of intense collaboration with MUSC sees groundbreaking potential for the results of this program.

“I am sure all MEF2C parents, and those of other rare diseases, remember the day they received their child’s diagnosis and the shock that there was nothing that could be done except for “managing” symptoms. We are now on the path to change that, starting now, so that in the near future when a family receives a MCHS diagnosis, they do not hear those dreaded words, instead, they hear that it will be okay, there is a treatment available. It has been a truly global effort from the MEF2C community to get to this point, and today with our partners at MUSC, the journey begins” – James Kelly Chair – MEF2C Foundation

For press inquiries, please contact James Kelly at enquiries@mef2cfoundation.com

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