Jennifer’s page

I am one of the researchers working on the mutations in eEF1A2. Part of my job is to recreate the mutations found in the DNA of the people effected with severe epilepsy, in cells and then study the effect this mutation has on the cells ability to behave normally. Taking advantage of the cells own machinery that fixes mistakes that occur naturally when DNA is copied, we are able to create breaks in the DNA near the site of the mutation we want to create. Then give the cell a synthetic blueprint or template to fix it with. This blueprint is a long piece of DNA which is identical to the cells own DNA except for one base that we have changed that is the mutation. The cell will use this synthetic piece of DNA to fix the break as it is so similar and insert our mutation without noticing.