Below you will find a list of the videos I found helpful as I began my journey to understand Cardio Facio Cutaneous Syndrome. If you know of any other videos that may be helpful please comment below or email me at leslierogers@sbcglobal.net.
A Diagram of the Map Kinase Pathway - This I don't understand, but looking at it gave me an appreciation for the complexity and difficulty of the task that lay ahead of us seeking treatments for CFC.
Basic DNA Mutation Explanation - For many CFC Children they have a de novo mutation, or a mutation that their parents do not have in their DNA.
CRISPR CAS 9 Animation - This is the greatest hope for the future of gene editing.
Genetic Mosaicism - This explains the different types of mosaicism. Mission explains how some children may inherit mutations that seemingly don't appear in the parents phenotype.
Genetic Sequencing- Specific Panels vs. Exome sequencing explained - This video graphically explains gene testing types.
Genetic Testing Explained the Long View - This is a detailed dive into genetic testing by Elysium Health.
Khan Academy Mutation Explanation Video - Khan Academy different types of mutations explained.
Kinase-Disease Associations - This is a table of the genes associated with the kinase pathway and what they are known/believed to be associated with within the body.
MAP2K1 CRISPR CAS9 Knockout Order Form - This is so exciting to see that there are people working to fix the specific gene that Gloria has a mutation in.
MAP K Signaling Pathway CGI example - This video shows the MAP K Pathway in 3D. It shows where the mutations lie within our childrens protein transcription translation process.
The Inner Life of the Cell - This is a heady explanation of the inside of our cells and gives a pretty hefty explanation of the complexity that lies within our cells.
Video of Transcription and Translation - Computer modeled animation of the DNA to RNA transcription process and the RNA to protein translation process.
What are De Novo Mutations? - This explains one of the most misunderstood aspects of genetics. No not everyone that has a mutation inherited it from their parents.