Alexis is a geneticist, with a broad interest in how genetic factors influence human health and disease.

Alexis grew up outside Washington DC and received her undergraduate degree from Carnegie Mellon University in Pittsburgh. After graduation, she was a post-baccalaureate researcher at one of the branches of the National Institutes of Health. Her work with Dr. Thomas Friedman at the National Institute on Deafness and Other Communication Disorders focused on a gene called CLPP that is important for the function of the mitochondria. Using mice, Alexis studied why mutations in this gene can cause congenital deafness.

In 2016, Alexis started her Ph.D. at the University of Pennsylvania. Alongside her advisor, Dr. Doris Stoffers, she studies a protein called PDX1 that plays an important role in diabetes.

A high blood glucose (sugar) level is extremely dangerous and can lead to heart attack and stroke. When the blood glucose level rises, beta cells in the pancreas release insulin, which travels to muscle and fat cells and signals them to take in glucose. In an individual with type 2 diabetes, the muscle and fat cells stop responding to insulin, and the blood glucose level keeps rising. This creates a feedback loop in the beta cells, which keep sensing high blood glucose and keep making more insulin to try to manage it. Eventually, this will “exhaust” the beta cells and they will die.

PDX1, the protein Alexis studies, regulates many of the genes that define beta cells. Thus, without PDX1, beta cells will die and/or lose their insulin-producing function. That is why studies have shown that getting rid of PDX1 in a mouse will create diabetes-like symptoms.

After PDX1 is made, it is modified by other proteins to activate and stabilize it - and Alexis studies these modifications. She wants to figure out which conditions allow these modifications to occur (stabilizing PDX1 and preventing diabetes) and which conditions block these modifications from happening (destabilizing PDX1 and leading to diabetes). To do this, she is taking beta cells and treating them with different amounts of glucose, and then measuring which modified version of PDX1 is present in those cells. She is also using these experiments to figure out how different modifications to PDX1 impact its ability to regulate other beta-cell genes.

By drawing the connection from glucose level to specific PDX1 modifications and then from those modifications to the impacted genes, Alexis is adding to what we know about how beta cells work and what goes wrong in diabetes.