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

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MEF2Cast

30 episodes

4 days ago

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

Science

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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

Science

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

MEF2Cast

1 hour 8 minutes 54 seconds

2 months ago

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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