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 today’s episode of the MEF2Cast, we interviewed Jamie Lundy, Certified Genetic Counselor with Simons Searchlight. Jamie joins us to give us a lesson in the basics of genetics and to share her expertise and insights on MCHS. Some subjects covered include:
The difference between nucleotides, genes, and chromosomes
How your body reads DNA
Introns vs Exons
The different kinds of genetic variants
Genotype vs phenotype
Germline mosaicism
The various types of genetic testing
And so much more!
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