I have started to receive all the material I bought from Amazon to try to get up to speed on genetics/brain.
The first movie I watched was called “Cracking the code of life”. Some of the take-aways:
- Having decoded the genome is a good step forward. The next challenge is understanding more about the million or so proteins that those genes can generate (and see if there are ways to compensate for gene defects).
- Proteins are a lot harder to understand than genes because they are complex 3D structures which can be combined together (30,000 genes producing 1-4 protein and through combinations resulting to about 1M different proteins).
- The best chance to translate genome to cure is to see how some people who have a defect better compensate for it and see if that compensation (usually another protein) can be delivered to all patience suffering from the defect (and not being able to internally compensate for it).
In the case of Clarisse, she is suffering from a micro-deletion on her chromosome 22 (called 22q11.2 micro-deletion). The deletion means that she has only one copy of the COMT gene and can not encode as many of the enzymes responsible for the breakdown of catecholamines, including dopamine (DA) and norepinephrine (NE).