Beyond using the identification of genetic variants for patient diagnosis and care, we also use information from human genetics to understand normal physiology and cell biology. These insights are derived from studying disease-causing genes and variants, and expanding to normal tissue. Through this work, we have uncovered important aspects of ubiquitylation during development (Beck DB et al Science Advances 2021), protein translation initiation, and vesicle formation. Specifically, we are interested in understanding the role of the ubiquitylation enzymes implicated in disease, under physiologic contexts. Our goal is to expand beyond the rare disease insights, and use human genetics and genomics to provide important insights in all individuals.
