Mission
The Fridovich-Keil Lab's goal is to understand the causes and modifiers of long-term complications in classic galactosemia and to develop and apply novel interventions to prevent or reverse those negative outcomes. We also seek to define the interplay between genetic variation and prenatal environmental exposures that influence birth outcomes.
Research Interests
The majority of our research addresses galactose metabolism and the role(s) galactose metabolites play in normal development and disease. Specifically, we are working to understand the mechanisms that underlie acute disease and long-term complications in the inherited galactosemias using a combination of human subjects studies and genetic model systems. We are also applying our model systems in translational studies developing and testing novel strategies for improved intervention in classic galactosemia.
In a separate line of research, we apply untargeted metabolomics to explore the interplay between genetic variation and prenatal environmental modifiers of birth outcomes.
