I am a practicing ophthalmologist with fellowship training in ophthalmic genetics and inherited retinal diseases. My clinical work focuses on the care of children and adults with inherited ocular conditions as well as comprehensive care to adults with a variety of ocular conditions including glaucoma and age-related macular degeneration. The goal of my research program is to better understand the genetic risk factors and pathophysiology of inherited ocular disorders both rare and common, and to develop novel therapeutics for genetic disorders. My extensive experience in human and mouse genetics, and mammalian eye and retinal development, have prepared me for the study of inherited ocular conditions including glaucoma. During my graduate training, I published six papers that established the role of the transcription factor ATOH7 (MATH5) in optic nerve development and persistent fetal vasculature of the eye, a human developmental abnormality associated with microphthalmia, cataract, glaucoma and congenital retinal detachments. My subsequent work has focused on the genetic and molecular basis of glaucoma and eye size disorders, using a combination of traditional linkage analysis, exome, and whole genome sequencing, along with RNA sequencing of patient samples and insights from animal models. These have led to the identification of a new transcription factor, MYRF, which modulates the development of the retinal pigmented epithelium (RPE) and leads to human nanophthalmos. We used an inducible deletion mouse model together with single cell RNA sequencing to define the cellular and molecular pathways that are controlled by this key transcription factor and define novel disease gene targets and we have applied multi-omics approaches to define novel candidate genes and regulatory variants in nanophthalmos. In parallel, we have identified and are currently functionally validating novel candidate genes for angle closure glaucoma, congenital and juvenile open angle glaucoma, and normal tension glaucoma. These include discovery of novel gain-of-function variants in DDX58/RIGI in families with juvenile glaucoma and Singleton-Merten syndrome, a rare disorder which includes ocular, cardiac, rheumatic and skin features. We have generated a mouse model of this disease, which recapitulates features of glaucoma and some features of the systemic disease. In collaboration with Michelle Kahlenberg, MD, PhD and Johann Gudjonsson, MD, PhD, at the University of Michigan and Pawan Singh, PhD, at the University of Missouri, we are using our patient fibroblasts and animal model to better understand mechanisms of glaucoma, define novel targeted therapies, and identify environmental triggers that may explain the variable penetrance and expressivity of this condition.
At all levels of my training, I have been devoted to teaching and training physicians and scientists. I have supervised multiple college interns in the laboratory, several laboratory technicians during my residency training, taught undergraduate courses in chemistry and graduate courses in human genetics, and supervised, lectured numerous medical students on their ophthalmology clinical elective, supervised graduate students and medical students for research rotations, and currently directly train two PhD (William Presley, Gabrielle Rozumek) and 1 MS graduate students (Fatima Traore).

1. Ophthalmic genetics and identifying new eye developmental disease genes.
2. Understanding the genetic determinants of refractive error, glaucoma, and inherited retinal diseases.
3. Investigating the molecular mechanisms of eye development and disease.
4. Developing targeted therapies for genetic eye disease.