Genes Involved in Anterior Segment Dysgenesis and Glaucoma
Glaucoma is one of the leading causes of visual disability in the United States (more than 2.7 million cases) and throughout the world (more than 60 million cases). There are certain developmental ocular disorders in humans that can lead to glaucoma. The goals of this proposal are to determine the genes involved in a group of developmental disorders known as anterior segment dysgenesis (ASD), which can lead to glaucoma, as well as create animal models of glaucoma to further understand the pathophysiology of the disease and how we may cure it.
Anterior segment dysgenesis (ASD) is a developmental anomaly of the eye that is associated with an increased risk of glaucoma. ASD can involve multiple tissues, including the cornea, iris, lens, ciliary body and ocular drainage structures (eg, the trabecular meshwork, or TM, and Schlemm’s canal). In fact, it’s estimated that glaucoma will arise in 50 percent of humans with ASD due to disruption in aqueous humour drainage that leads to an elevation in intraocular pressure (IOP).
Our laboratory has developed a new mouse model of ASD in which an important gene (AP-2beta) has been deleted in the anterior segment of the eye. Analysis of this exciting new model will include measurement of IOP, assessment of the timing and degree of retinal ganglion cell loss, as well as assessment of subsequent optic nerve axon degeneration. Additional genetic models of ASD and glaucoma will be also be generated by our lab by deleting the AP-2beta gene in specific ocular tissues. The findings from these studies are expected to add to the understanding of the genetic cascade controlling anterior segment development, and to the pathophysiology of closed angle glaucoma and optic neuropathy. Our models may also be used for testing promising therapeutic agents for glaucoma.
About the Researcher
Judith West-Mays, PhD, is a Professor in the Department of Pathology and Molecular Medicine at McMaster University in Hamilton, Ontario (CA). She obtained her Master’s and PhD degrees from the School of Optometry and the Department of Biology at the University of Waterloo in Waterloo, Ontario. She then completed three years of Postdoctoral studies in the Department of Dermatology at Harvard Medical School in Cambridge, Mass. In 2002, Dr. West-Mays was recruited to McMaster University from the Tufts Center for Vision Research, Tufts University and New England Medical Center, in Boston, where she held a prestigious Career Award from Research to Prevent Blindness. Her expertise is in molecular biology and genetics of vision and she has held multiple grants from the Canadian Institutes of Health Research and the U.S. National Institutes of Health (NIH) for investigating genes and molecular mechanisms involved in eye development and ocular disease, with emphasis on genes causing cataracts, glaucoma and retinal disease.
Dr. West-Mays has given numerous invited lectures, sits on a number of grant review panels including those for the NIH, and has been a reviewer and editor for a number of journals, including Investigative Ophthalmology and Vision Science (IOVS), Molecular Vision, and Developmental Dynamics. She has published extensively in top-notch peer-reviewed journals including the Proceedings of the National Academy of Sciences, Molecular Cell Biology, and Human Molecular Genetics. In addition to her research, Dr. West-Mays actively participates in teaching undergraduate, graduate and medical students and is the assistant dean of the Medical Sciences Graduate Program at McMaster University.
"The BrightFocus research grant has provided us with an excellent opportunity to explore and expand a new area of research in our laboratory that otherwise may not have been possible. We are very grateful for that."
First published on: July 15, 2015
Last modified on: July 1, 2017