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Margaret M. DeAngelis

Margaret M. DeAngelis, PhD

Languages spoken: English

Academic Information

Departments Adjunct - Population Health Sciences , Adjunct - Ophthalmology & Visual Sciences

Academic Office Information

margaret.deangelis@utah.edu

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 mechanism. 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; Carl Reeves Foundation; Macular Degeneration Foundation; and Center of Aging, Division of Geriatrics, University of Utah.

Research Statement

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.

Education History

Postdoctoral Fellowship Harvard Medical School - Thaddeus P. Dryja, M.D.
Postdoctoral Fellow
Louisiana State University Medical Center, School of Graduate Studies
PhD
Graduate Training Medical College of Virginia
MS
Clark University
BA

Selected Publications

Journal Article

  1. Hageman GS, Gehrs K, Lejnine S, Bansal AT, Deangelis MM, Guymer RH, Baird PN, Allikmets R, Deciu C, Oeth P, Perlee LT (2011). Clinical validation of a genetic model to estimate the risk of developing choroidal neovascular age-related macular degeneration. Hum Genomics, 5(5), 420-40. (Read full article)
  2. Deangelis MM, Silveira AC, Carr EA, Kim IK (2011). Genetics of age-related macular degeneration: current concepts, future directions. Semin Ophthalmol, 26(3), 77-93. (Read full article)
  3. Jelcick AS, Yuan Y, Leehy BD, Cox LC, Silveira AC, Qiu F, Schenk S, Sachs AJ, Morrison MA, Nystuen AM, Deangelis MM, Haider NB (2011). Genetic variations strongly influence phenotypic outcome in the mouse retina. PLoS One, 6(7), e21858. (Read full article)
  4. Feehan M, Hartman J, Durante R, Morrison MA, Miller JW, Kim IK, Deangelis MM (2011). Identifying subtypes of patients with neovascular age-related macular degeneration by genotypic and cardiovascular risk characteristics. BMC Med Genet, 12, 83. (Read full article)
  5. Jun G, Nicolaou M, Morrison MA, Buros J, Morgan DJ, Radeke MJ, Yonekawa Y, Tsironi EE, Kotoula MG, Zacharaki F, Mollema N, Yuan Y, Miller JW, Haider NB, Hageman GS, Kim IK, Schaumberg DA, Farrer LA, DeAngelis MM (2011). Influence of ROBO1 and RORA on risk of age-related macular degeneration reveals genetically distinct phenotypes in disease pathophysiology. PLoS One, 6(10), e25775. (Read full article)
  6. Schaumberg DA, Chasman D, Morrison MA, Adams SM, Guo Q, Hunter DJ, Hankinson SE, DeAngelis MM (2010). Prospective study of common variants in the retinoic acid receptor-related orphan receptor alpha gene and risk of neovascular age-related macular degeneration. Arch Ophthalmol, 128(11), 1462-71. (Read full article)

Book Chapter

  1. Hartnett ME, DeAngelis MM (2012). The Role of Reactive Oxygen Species and Oxidative Signaling in Retinopathy of Prematurity. In Studies on Retinal and Choroidal Disorders. Humana (Springer).

Case Report

  1. Jakobiec FA, Zakka FR, DAmato R, Deangelis MM, Walton DS, Rao RC (2011). Unilateral sporadic retinal dysplasia: results of histopathologic, immunohistochemical, chromosomal, genetic, and VEGF-A analyses. J AAPOS, 15(6), 579-86. (Read full article)

Video/Film/CD/Web/Podcast

  1. DeAngelis MM (2011). Utah BioHealth Initiative [Video]. University of Utah.