Core Conversations 1- Dr Cowan Revisited

In this first installment of our Core Conversations series, we explore the critical role of MEF2C, a transcription factor that shapes early brain development and influences a wide range of neurological functions. This conversation unpacks how MEF2C regulates gene expression, orchestrates neuronal pruning, and affects both excitatory and inhibitory neurons. We also dive into its connections with autism spectrum disorders, sleep regulation, motor coordination, and sensory processing.

The discussion highlights ongoing research into therapeutic strategies—including the promise of gene therapy and viral delivery of MEF2C—and underscores the vital role families play in advancing this science. By understanding MEF2C’s multifaceted impact on the brain, researchers and families alike can work together to build the foundation for more effective treatments for conditions like MCHS.

Subjects covered include:

• Understanding MEF2C as a transcription factor in brain development

• How MEF2C loss contributes to autism and related disorders

• The balance between excitatory and inhibitory neurons

• Why neuronal pruning is key to healthy brain function

• Links between MEF2C and sensory, motor, and sleep regulation

• The influence of microglia on brain health

• Current therapeutic approaches, from gene therapy to viral delivery

• Why family engagement is essential for moving research forward

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