Metabolomic/Lipidomic Analysis of ApoE Isoform Effects

Genes are made up of precise building blocks, imagine square blocks stacked together in an orderly fashion. Sometimes there are differences in these building blocks between people which may cause disease, for example, a building block may be shaped liked a triangle rather than a square, causing the stack to be unstable. In other instances, genetic variations may be benign, such as a color change from red to orange. Our goal is to determine which genetic variations are disease-causing and then to take that variant and create a mouse model that carries the disease-causing change. This mouse model could be used to study what the change in the building block does to the eye, how it leads to disease, and it can also be used to test different treatments.