Yutao Liu, MD, PhD, FARVO

The long term goal of our laboratory is to dissect age-related genetic diseases (glaucoma and keratoconus) using systematic approaches, including human genetics/epigenetics, functional genomics, and molecular/cellular biology. Our lab has extensive research experience in the area of human genetics, bioinformatics, and functional genomics using several model systems, including human samples, in vitro cell/tissue culture and mouse models. Our research has been published in over 100 peer-reviewed articles, including Nature Genetics, PLoS Genetics, AJHG, PNAS, HMG, IOVS, EER, and Molecular Vision. Our research has been supported by a variety of different organizations, including the National Eye Institute at the National Institute of Health, several private foundations (The Glaucoma Foundation - TGF, the Glaucoma Research Foundation – GRF, the American Health Assistance Foundation – AHAF or BrightFocus, and RPB), and institutional supports.

Our current research is focused on understanding the molecular mechanisms and pathogenesis of two vision-related disorders: keratoconus (KC) and glaucoma. KC, a progressive thinning of the cornea, is the most common corneal ectasia, affecting one in every 500 to 2000 Americans. KC causes moderate to severe astigmatism, nearsightedness, swelling and cornea scarring. It is necessary for 10-20% KC patients to have cornea transplants. Using whole exome and whole genome sequencing, we have identified novel mutations in multiplex KC families. We are characterizing these mutations using primary human corneal cells and transgenic mouse models. We have research collaborations with investigators from California, Iowa, Illinois, Saudi Arabia, Israel, and Duke University in North Carolina. Glaucoma is the leading cause of irreversible blindness worldwide, affecting over 60 million people. It is characterized as a progressive loss of retinal ganglion cells and visual field. 

Dr. Liu is a Co-Investigator of the NEIGHBORHOOD glaucoma genetics consortium.