SUMMARY
Mayo Clinic researcher Yutao Liu, Ph.D., M.S., is a human geneticist who studies the molecular genetics and functional genomics of ocular genetic disorders, with an emphasis on glaucoma, keratoconus and Fuchs dystrophy. His research focuses on identifying genetic risk factors, characterizing gene-environmental interaction and understanding the role of estrogen receptor signaling in disease. He also studies how environmental factors, regulatory pathways, and patterns of gene and protein expression influence disease onset and progression. By linking genomic and epigenomic signals to underlying biological mechanisms, his team aims to identify pathways that can be tested and validated in experimental model systems.
Dr. Liu integrates genome-wide association studies, next-generation DNA and RNA sequencing, epigenomic mapping, droplet digital PCR, proteomics profiling, and transcriptomic profiling to study ocular tissues and primary human ocular cell models in 3D and organ-on-chips. Through these approaches, he maps disease-relevant networks involving microRNAs, long noncoding RNAs and mRNA expressions. He also uses experimental perturbations — such as cyclic mechanical stretch, knockdown and pathway-focused pharmacological approaches — to study the functional impact of genetic findings in animal models, 2D and 3D culture, organ-on-chips and eye perfusion models. These comprehensive multi-omics and interdisciplinary approaches help clarify how genetic variation may influence intraocular pressure regulation, trabecular meshwork and Schlemm's canal biology, and corneal structure and metabolism.
Dr. Liu also enjoys mentoring undergraduate, graduate and medical students by identifying individualized training projects tailored to their career goals and personal training backgrounds. Dr. Liu's research group is highly collaborative, interactive, mutually supportive, and open-minded to new ideas and technologies.
Focus areas
- Genetics of glaucoma risk. Dr. Liu investigates genetic contributors to primary open-angle glaucoma, exfoliation glaucoma and intraocular pressure regulation. He uses consortium-scale population genetic studies and follow-up functional experiments to move from association signals to testable mechanisms such as estrogen receptor signaling and genes on sex chromosomes. His work addresses how common and rare genetic variants can shape ocular outflow tissue mechanobiology and glaucoma susceptibility using comprehensive experimental approaches.
- Keratoconus gene-environment models. Dr. Liu studies genetic factors underlying keratoconus, including candidate gene discoveries and their biological consequences. He combines patient-derived sequencing with in vivo mouse models and controlled environmental exposures to clarify how corneal defects arise and progress. This program targets the gap between genetic discoveries and clinically relevant disease modeling, enabling therapeutic target discovery and testing novel clinical treatments in these unique models.
- RNA in eye disease. Dr. Liu characterizes microRNA and long noncoding RNA networks implicated in glaucoma, exfoliation syndrome-associated glaucoma and keratoconus. He uses RNA sequencing, proteomics, mechanobiology and integrative bioinformatics to identify dysregulated pathways and prioritize targets for mechanistic testing. This approach aims to reveal regulatory layers not captured by coding-variant analyses alone.
- Extracellular vesicle biomarkers. Dr. Liu develops and applies comprehensive methods to isolate, characterize and profile extracellular vesicles and their contents from diverse biofluids relevant to eye, cancer and aging research. He evaluates extracellular vesicles RNA and protein content to understand cell-to-cell signaling and to identify candidate biomarkers. This work addresses the need for sensitive molecular readouts in small-volume ocular samples.
Significance to patient care
Glaucoma and keratoconus can lead to permanent vision loss, and many people are not diagnosed until some damage has already started. Dr. Liu's research aims to better understand why these diseases develop and what causes them to get worse. By studying genetic changes and how they affect the eye, his work may help healthcare professionals identify people at risk earlier and develop new ways to treat glaucoma and keratoconus.
Dr. Liu also studies how changes in hormone-related pathways, including estrogen receptor signaling, affect eye health as women age and transition through menopause. This research could lead to new treatment approaches that support eye health without relying on estrogen.
Over time, this research may help make care more personalized, improve how healthcare professionals monitor eye diseases, and lead to new therapies that slow or prevent vision loss.
Professional highlights
- Gold ARVO Fellow, Association for Research in Vision and Ophthalmology, 2024-present.
- Member, Scientific Advisory Board, The Glaucoma Foundation, 2017-present.
- Augusta University:
- Distinguished Researcher Award, Augusta University Research Institute, 2024.
- Distinguished Service Award, The Graduate School, 2023.
- Basic Research Distinguished Faculty Award, Faculty Senate, Medical College of Georgia, 2021.
- Overseas honorary member, Chinese Ophthalmological Society, 2023.