I research novel treatments for rare genetic disorders in metabolism. My lab particularly studies Long-chain 3-hdyroxy AcylCoA dehydrogenase deficiency or LCHADD, an inherited genetic disorder in the ability to use fatty acids for energy. Patients with LCHADD have a slow degeneration of the retina at the back of the eye, that leads to vision loss. They may also have cardiac problems including cardiomyopathy, or a poorly functioning heart, or acute arrythmias, electrical disturbances of the heart, as infants or later in adolescence and adulthood. We conduct clinical studies in patients and basic science studies in cultured cells and mouse models.

Our recent clinical studies include a prospective natural history of LCHADD chorioretinopathy, a retrospective review of arrythmias in adolescents and adults and a preliminary treatment trial of supplemental oral ketones. We enrolled 40 participants in our natural history of LCHADD retinopathy study. This is the first prospective study to measure the rate at which vision declines among patients with LCHADD. Our retrospective study identified acute, potentially fatal arrythmias in young adults with LCHADD and we are now investigating the underlying causes in our LCHADD mouse. We also partnered with Nestle Health Science to see if oral ketones before exercise can improve the ability to exercise among participants with LCHADD and related long-chain fatty acid oxidation disorders. The clinical trials are critical to better understand LCHADD and drive our basic science research goals.

We used CRISPR/Cas gene editing tools to create a mouse with the common LCHADD genetic variant. Our mouse develops chorioretinopathy, cardiomyopathy and arrythmias similar to human patients. We also developed a cell culture model using cultured skin cells or fibroblasts from patients with LCHADD. The skin cells differentiated them to retinal pigment epithelium or eye cells in a petri dish. Now we have cell culture and mouse models to study the cause of retinal and heart problems and to test new treatments that might prevent these problems in pre-clinical models. We are currently investigating several novel treatments for the retinopathy and exploring potential causes of the cardiac arrythmias.

In addition, I mentor students and teach. I am the co-director of Genetic Mechanisms and Bioregulation (BMSC-662) and I teach Nutrition Epidemiology  (Nutn-527) and Nutrition Research (Nutn-514) in the Graduate programs of Human Nutrition. I mentor master’s students in nutrition and PhD students in genetics. We have a collaborative laboratory environment where students are encouraged to contribute and participate as part of our lab team.

Outside the lab I enjoy cooking, hiking and time with family and friends.