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About MEF2C Family Foundation

MEF2C Family Foundation is a 501(c)(3) not-for-profit dedicated to advocacy, support, awareness, and accelerating collaborative research to find a cure for MEF2C related disorders. MEF2C (myocyte enhancer factor 2C) is a gene that plays a crucial role in brain development, particularly in areas associated with cognitive function, motor skills, and speech. For individuals with MEF2C related disorders, this gene isn’t working as intended. People with these changes to the MEF2C gene generally have: • Intellectual disability and developmental delays • Motor skill difficulties and low muscle tone (hypotonia) • Limited or absent speech development • Epilepsy or other seizure disorders MEF2C-related disorders also have an overlap with Autism Spectrum Disorder (ASD). ASD is a clinical diagnosis, meaning that it relies on observing an individual's communication, social interaction, and behavior patterns, as described in the DSM-5 criteria, with no specific medical test or scan currently available to diagnose ASD. We are a community of families, advocates, and professionals united by a shared journey with MEF2C-related disorders — also referred to as MEF2C Haploinsufficiency Syndrome. We are here to connect, support, and empower families like yours. Together, we partner with researchers and clinicians to deepen understanding, advance treatments, and work fiercely toward our ultimate goal: a cure.

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