Dr Margaret DeAngelis
Consulting Editor: Margaret M. DeAngelis (PhD)
Associate Professor with Tenure, University of Utah School of Medicine, Department of Ophthalmology and Visual Sciences, Salt Lake City, Utah, USA
Dr. DeAngelis has focused her career on vision research since 1999, when she received a post-doctoral fellowship training grant on macular degeneration as part of the Molecular Basis of Eye Disease program at Harvard Medical School. Working in collaboration with ophthalmologists and retinal specialists, she recruited and developed a large patient population of families to study the genetic and epidemiologic underpinnings of age-related macular degeneration (AMD), the leading cause of blindness in those over 50 years of age.
Since this time, the DeAngelis’ laboratory has been utilizing a systems-biology based approach to pinpoint disease causality for AMD. Utilizing genomics, gene expression and protein coupled with epidemiological information from families her laboratory discovered three novel AMD associated genes, RORA, ROBO1, CYP24A1 and then replicated these findings in diverse patient populations with study collaborators. Moreover, RORA was shown to interact with other established AMD genetic risk factors (ARMS2/HTRA1) thus furthering the development of a unifying hypothesis underlying AMD pathophysiology. More recently, while at the University of Utah, her laboratory is bridging the gap between genetic association studies and function by uncovering mechanisms involved in the development and progression of disease. To this end, the DeAngelis’ laboratory has collected and characterized a fresh donor eye repository for studies of normal aging, age related macular degeneration, glaucoma and diabetic retinopathy. These studies include gene expression, RNA-Seq, ChIPseq, proteomics and epigenetics. The laboratory also continues to recruit and characterize ethnically diverse populations throughout the world in an effort to understand the origin and significance of genetic variation, environmental factors and diseases that co-occur with AMD as well as glaucoma (e.g.,Alzheimer disease and cardiovascular disease). The DeAngelis laboratory employs genomic technologies and state of the art bioinformatic tools for analysis and statistical modeling to identify functional variants as well as key regulatory elements in genes and networks in an effort to develop appropriate preventive and therapeutic targets for these devastating forms of blindness. Most recently, work that has come from the DeAngelis lab identifying the Vitamin D pathway in AMD has resulted in clinical trials for AMD.