The MEF2C Foundation is partnering with scientists to accelerate groundbreaking research with the aim being to develop a treatment for those with MEF2C associated conditions, whilst providing information and support for our families along the way

What is MEF2C and MEF2C Haploinsufficiency Syndrome?

MEF2C Haploinsufficiency Syndrome (MCHS) is a profoundly challenging neurodevelopmental disorder that occurs when one copy of the MEF2C gene is deleted or mutated resulting in dysfunction of the MEF2C protein. First described in 2009, these variations in the MEF2C gene cause significant cognitive and physical impairments. Individuals often experience severe to profound developmental delay, low muscle tone (hypotonia), seizures, absent speech, stereotypic movements, and subtle characteristic facial features. Click here to learn more

Currently, there is no available treatment for this condition, leaving these children and young adults reliant on others indefinitely. The most optimistic scenario involves managing their often complex needs through 24/7 care. There are over 300 children and young adults across the globe known to have MCHS, however, as genetic testing becomes more widely available we expect this number to grow significantly. Recent projections suggest that the prevalence of MEF2C variations could be as high as 1 in 1000. The MEF2C Foundation’s first priority is to bring awareness, focus and to drive the development of MEF2C target treatments.

There is hope…

…and we need your support to make this a reality.

Over the past year, the consortium of MEF2C charities, which have expanded globally (see our sister organizations here), has collaborated with a leading researcher to establish a MEF2C focused research program that aims to develop treatments for MCHS. This focused approach will enable accelerated progress with the target of being ready for human clinical trials within three years.

The techniques being utilized have already demonstrated success and safety in treating other severe genetic conditions, instilling us with great confidence. However, specific adaptations are necessary before they can be applied to MEF2C.

Achieving this goal and obtaining approval for MCHS treatments has the potential to impact a much broader range of neurodevelopment and neuropsychiatric disorders, including schizophrenia, broader autism spectrum disorders, attention-deficit hyperactivity disorders as well as Alzheimer’s and other neurodegenerative diseases which have all been connected to MEF2C. The MEF2C Foundation will not stop with MCHS and aspires, with your growing and continued support, to positively impact many lives worldwide.

Please continue to check this website regularly, as we have plans to provide extensive information about MEF2C Haploinsufficiency Syndrome and the ongoing research efforts aimed at developing potential treatments that we are seeking to fund. We are dedicated to keeping you updated on our progress and sharing valuable insights into this condition. Together, along with our sister organizations, we can make a difference in the lives of those affected by MEF2C and contribute to advancements in medical research.

Make a donation.

If you can help us with whatever you can afford, and distribute this appeal in your networks, we would be extremely grateful as this represents a real chance for all of these children and young adults to gain mobility, independence and the ability to learn and live healthy lives.  

Thank you so much! 

Donate (£ GBP)

  • Jordi

  • Alicia

  • Sophia

  • Elijah

  • Noah

  • Daniel

  • Guillem

  • Lyra

Contact Us

If you have any questions about the what we do or if you or someone you know are affected by MEF2C Haploinsufficiency Syndrome, we would love to hear from you.

We respect your privacy and will never pass on your details to any third parties.