Dr. DeAngelisDr. 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 clinicians, 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 individuals over age fifty.

The DeAngelis’ group has been utilizing a systems-biology-based genomic convergence approach to pinpoint disease causality for AMD. To this end, utilizing both families and unrelated case-controls to study DNA, gene expression, and protein, coupled with epidemiological information, her group identified two novel AMD associated genes, RORA and ROBO, in three diverse patient populations. 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. Her laboratory continues to utilize systems-based biological approaches, including identifying functional variants as well as key regulatory elements in genes (or sets of genes) in an effort to develop appropriate, preventive, and therapeutic targets for this devastating form of blindness.

Dr. DeAngelis has recruited and characterized ethnically diverse populations (including the underserved) throughout the world in an effort to understand the origin and significance of genetic variation and environmental factors associated with AMD as well as other blinding diseases such as diabetic retinopathy and hypertensive retinopathy. Recently, our laboratory has begun to examine the functional significance of the observed genetic associations in age-related macular degeneration, employing whole genome RNA-Seq and targeted bisulfite sequencing on fresh donor eye tissue and cell lines from these donor patients.

"The Role of Vitamin D Metabolism and BMI in Women's Health" at the WomensEyeHealthorg annual ARVO meeting update on AMD, May 5, 2013

Patient Care Significance

In the United States, AMD is the leading cause of blindness in those more than 50 years in age. By better understanding how genes and environmental factors interact to create disease, Dr. DeAngelis hopes to develop health-informed drug delivery that gets to underlying causes, ultimately helping to cure and prevent disease.