Margaret M. Deangelis PhD

Dr. DeAngelis is currently a Professor at the University of Utah School of Medicine and 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 clinicians throughout her career, she has recruited, ascertained, and developed large patient populations of both families and unrelated case-controls to study the genetic and epidemiologic underpinnings of both common and rare ophthalmic conditions.

Specifically, the DeAngelis’ group utilizes a systems-biology-based approach to pinpoint disease causality. To this end, utilizing both families and then replication in unrelated case-controls to study DNA, gene expression, and protein, coupled with epidemiological information, her group has identified novel genes and pathways associated with common diseases including age-related macular degeneration (AMD) (RORA, ROBO1, CYP24A1) and then replicated these findings in diverse patient populations. RORA, an intracellular target of cholesterol, was shown to interact with other established AMD genetic risk factors (ARMS2/HTRA1) thus furthering the development of a unifying hypothesis underlying AMD pathophysiology.

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 other blinding eye diseases. The creation of a well-characterized fresh donor eye repository by Dr. DeAngelis to study diseases, including AMD and glaucoma, has enabled her laboratory to employ and develop multi-omic approaches, including RNASeq, allele-specific expression, epigenetic, and bioinformatic tools to delineate disease mechanisms. This is done in an effort to develop appropriate preventive and therapeutic targets for these devastating forms of blindness.

Recent work from the DeAngelis lab identifying Vitamin D pathway genetic risk variants in AMD has resulted in clinical trials for age-related macular degeneration.

Dr. DeAngelis serves on the senior executive committee/steering committee for the International AMD Genomics Consortium sponsored by NEI/NIH. Dr. DeAngelis is also committed to teaching and mentoring the next generation of scientists and clinician-scientists, and she is a mentor and advisor to undergraduate, graduate, medical students, fellows, and junior faculty.

Dr. DeAngelis has over 60 peer-reviewed publications, book chapters, and reviews. She serves on several editorial boards and national and international grant review panels. Her work has been generously funded by the NEI; The ALSAM Foundation; The Skaggs Research Foundation; The Bank of America/Thome Memorial Fund; the Carl Reeves Foundation; the Macular Degeneration Foundation; and the Center of Aging, Division of Geriatrics, University of Utah.