Margaret M. Deangelis

Margaret M. Deangelis

Contact Information
VA Western NY Healthcare system
3495 Bailey avenue
Bldg 20 Room 217
buffalo, NY 14215
mmdeange@buffalo.edu



Professional Summary:

My training is in ascertainment and recruitment of human populations, neuroscience, genetics, ophthalmology, epidemiology, statistical genetics and molecular biology. My program of research utilizes a systems-biology based approach to understand disease mechanisms in both Mendelian and complex blinding diseases. To this end, utilizing both families and then replication in large case-control populations to study DNA, gene expression and protein coupled with epidemiological information, our group has identified novel biomarkers (RORA, ROBO1, CYP24A1) and pathways associated with age-related macular degeneration and then replicated these findings in large ethnically diverse case control patient populations. We demonstrated that RORA, an intracellular target of cholesterol, interacted with other established AMD genetic risk factors (ARMS2/HTRA1) thus furthering the development of a unifying hypothesis underlying AMD pathophysiology. To enhance our translational efforts, in 2013, our laboratory and team of ophthalmologists created a well characterized fresh human donor eye bank of tissue, blood, serum and plasma from private foundation grants awarded to Dr. DeAngelis. The creation of a well characterized fresh donor eye repository by our group to study healthy eyes compared to disease states including, AMD, has enabled us to employ and develop genome wide level multi-omic approaches, including miRNAseq, RNASeq, RNA- single nuclei-Seq, allele specific expression, epigenetic, and statistical/bioinformatic tools to delineate disease mechanism. This is done in an effort to develop appropriate therapeutic targets and biomarkers for the different clinical stages of blinding disease. currently there are no cures for age-related macular degeneration. I have extensive experience teaching and mentoring the next generation of scientists and clinician scientists and am or have been a mentor and advisor to undergraduate, graduate, medical students, fellows, and junior faculty. I also teach classes for neuroscience, genetics and epidemiology. I have over 80 publications and serve on the steering/leadership committee for the international AMD genetics consortium, sponsored by the NEI/NIH. Recently I was appointed to the Scientific Oversight Committee for The Global Eye Genetics Consortium (NEI/NIH). I also have chaired or served on several NIH study section review panels and foundation grants.

Education and Training:

  • Cert, statistics, Rockefeller University (2004)
  • Postdoctoral Fellow, Human genetics, statistics, bioinformatics, ophthalmology, epidemiology, Harvard Medical School/MEEI (2003)
  • PhD, Neuroscience, Louisiana State University Health Sciences Center (1999)
  • MS, Physiology, Medical College of Virginia (1993)
  • BA, science technology and society, Clark University (1986)

Employment:

  • Assistant Professor, Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School (2007–2010)
  • Instructor, Ophthalmology, Massachussets Eye and Ear Infiramary, Harvard Medical School (2003–2007)




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Contact Information

VA Western NY Healthcare system
3495 Bailey avenue
Bldg 20 Room 217
buffalo, NY 14215
mmdeange@buffalo.edu