MEF2Cast
MEF2Cast
Podcast Description
Haley and Eli, parents of a child with MEF2C Haploinsufficiency Syndrome (MCHS), speak to both other parents and scientific experts to educate, support, and build community around MCHS
Podcast Insights
Content Themes
Focuses on the challenges of parenting children with MEF2C Haploinsufficiency Syndrome, including episodes like From Diagnosis to Action discussing emotional impacts and advocacy, alongside explorations of community support, early intervention strategies, and the significance of shared experiences among parents.
Haley and Eli, parents of a child with MEF2C Haploinsufficiency Syndrome (MCHS), speak to both other parents and scientific experts to educate, support, and build community around MCHS
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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