I am working on the development of a cell system to test the stimulation of the SMN2 gene.
Genes are blueprints for making proteins.
Proteins are the functional molecules in our cells. In most genetic diseases, a single gene, responsible for the production of a single protein, is mutated and unable to function properly. A gene that can not produce an intact protein will lead to the absence of a functional protein. Lack of a functional protein is the cause of the disease. SMA is a complex disease at the genetic level, because more than one gene is involved.