Episode 22: The Volāre Study — Community, Data, and Hope with Dr. Zachary Grinspan

In this episode, we sit down with Dr. Zachary Grinspan, a pediatric neurologist whose work focuses on MEF2C haploinsufficiency syndrome (MCHS). Dr. Grinspan leads the Volāre study, a groundbreaking effort to map the natural history of MCHS and build the foundation for future therapies. He explains the role of the MEF2C gene in brain development, why seizures are so common in this community, and how EEG data may unlock new biomarkers to guide treatment.

The conversation explores the complexities of sleep disturbances in affected children, the study’s mix of in-person and virtual participation, and the critical role of families in shaping research. Dr. Grinspan emphasizes that while there are still many unanswered questions, the data being collected today offers real hope for tomorrow’s therapies.

Subjects covered include:

• Understanding the MEF2C gene and its role in development

• Seizures in MCHS and the excitatory–inhibitory imbalance

• EEG as a tool for identifying biomarkers

• The challenges of sleep issues in children with MCHS

• The Volāre study’s natural history design and participant experience

• Why community involvement is vital to successful research

• How data today can pave the way for future treatments

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