work by Dr. Sanders. It is a spectrum between loss and gain of function
This week was my 6th week at the Bernier Lab, and it went by in a whirlwind. At the beginning of the week we were preparing for the conference visits to start on Wednesday. This involved getting final paper work together, setting up testing kits, and lots more. Once the conference started up, I observed testing and helped out with needed tests in the lab. This conference was for a gene associated with autism and epilepsy, SCN2A. SCN2A codes for a protein for sodium channels in the brain called Nav1.2. SCN2A mutations (there are many variants) can result in a loss of function or a gain of function for the protein. If having a loss of function, (meaning the mutation results in less activity in the channels), they will often have autism or a developmental delay. If the mutation is a gain of function (meaning the channel is hyperactive), they will have severe and consistent seizures). The conference brought different disciplines together, all studying or prevalent to SCN2A, in order to teach scientists and families about this disease. Some of the talks included looking at the chemistry of the molecules, looking at mouse models for drugs in the work for SCN2A, looking at the genetics and biology of the gene and testing done for diagnosing. One of my favorite talks was about gene therapy which Dr. Katherine Meyer has started to successfully fix certain mutations in the human genome. She has not worked on SCN2A yet because its important function makes it hard test and fix the core problem. It was an amazing experience to be able to attend this conference put on by famileSCN2A (https://www.scn2a.org/) FamileSCN2A is a parent run group which missions is to “improve the lives of those affected by SCN2A related disorders through research, public awareness, family support and patient advocacy.”
When I was not at the conference, I was hung out around the Green Lake area. On Tuesday I was able to do an official tour of the UW campus, and it was great to learn more about the campus and the different programs they offer. Wednesday night I was able to play soccer again! This time I was able to play half on the field and half in goal. This weekend, my dad has come to Seattle for a quick visit! It has been great to see him briefly.
Dinner and sunset at Ray’s Boathouse
showing my dad around Seattle
From a presentation: a slice of a rat’s brain. The small black dots show where SCN2A gene is expressed in the brain
From the gene therapy talk… you can see there are many barriers ahead for gene therapy in SCN2A
Mac and Cheese from Beecher’s cheese at Pike Public Market
Working at the lab
Claire, You are learning so much during this conference. It is very interesting to hear about this SCN2A mutations. How fun to have Dad come and see you and get to show him around Seattle. Love, Mom