Episode 19: MEF2C – From Research to Real Life with Dr. Steve Skinner and Dr. Jessica Cooley-Coleman

In this episode, we sit down with Dr. Steve Skinner, CEO of Greenwood Genetic Center (GGC), and Jessica Cooley-Coleman, a genetic counselor at GGC, to explore the complexities of MEF2C haploinsufficiency syndrome. Together, they share their personal journeys in the field, discuss the genetic underpinnings of the condition, and explain the clinical features observed in patients. The conversation sheds light on the importance of natural history studies, the relationship between MEF2C and autism, and the ongoing challenges families face when navigating the medical landscape. Dr. Skinner and Jessica emphasize how continued research, collaboration, and family participation are key to improving understanding and developing future treatment options. Subjects covered include:

• The role of the MEF2C gene in development

• Insights from natural history studies

• Seizures in MEF2C haploinsufficiency

• MEF2C’s connection to autism

• Understanding how genetic mutations occur

• Variability in dysmorphic features

• Potential cardiac associations

• Genotype-phenotype correlations

• Family involvement in research

• Future directions in gene therapy and editing

  
  

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