The genetic variation found in natural populations is a rich unbiased resource for identifying novel elements of biological pathways. Variation is often exploited to study adaptive traits but remains under-utilized in the study of disease modifiers and pathways. Understanding how a particular pathway varies within a population provides insight into how variation may impact biomedical traits, eventually leading to a deeper knowledge of pathways and the nomination of disease modifier genes. Current technology makes screens of natural variation practical and efficient. The next challenge is to identify the biology behind the variation that is observed. Dr. Chow’s lab is focused on understanding the role of genetic variation on disease outcomes. They employ quantitative and functional tools in various model organisms to study how genetic variation impacts phenotypes important to human health.
They are applying this approach to both basic cellular traits like the ER stress response and to specific diseases like Alzheimer’s Disease. They utilize genetic variation in model organism resources in both mouse and Drosophila. For Alzheimer’s Disease, they are using Drosophila genetic variation to identify and study novel natural genetic disease modifiers. His lab’s work in model organisms will help to model and inform studies of genetic variation in the human population. They hope to identify variation in the human population that can lead to more precise, personalized therapies