Margaret M. DeAngelis
Margaret M. DeAngelis
Professional Summary:
Dr. DeAngelis’ program of research utilizes a systems-biology-based approach to understand disease mechanisms in both Mendelian and complex blinding conditions, including age-related macular degeneration (AMD), glaucoma, diabetic retinopathy, and hypertensive retinopathy; and co-segregating conditions (Alzheimer’s disease, cardiovascular disease, and diabetes). This translational research is funded by the NIH, private foundations, and the pharmaceutical industry. She is ultimately focused on identifying potential targets and mechanisms for treatment for these disease areas, across their stages of development.
To enhance translational efforts, her laboratory and colleagues have created a well-characterized fresh human donor eye bank of ocular tissue, blood, serum, and plasma. Using this resource, contrasting healthy eyes with diseased eyes (accurately phenotyped) has helped delineate potential disease mechanisms. Dr. DeAngelis leverages genomic approaches including, single-cell RNASeq, miRNAseq, bulk RNA-Seq, single nuclei-RNA-Seq, single nuclei ATAC-Seq, allele-specific expression, epigenetic and statistical/bioinformatics tools to functionally characterize disease mechanisms. She has published the only standardized phenotyping protocol for human donor eyes specifically used for biochemical and molecular studies. The success of the eye bank is dependent on close collaboration with several board-certified ophthalmologists and fellowship-trained specialists.
Dr. DeAngelis has extensive experience in leading scientific teams for patient ascertainment and recruitment in ethnically diverse vulnerable patient populations within the United States and globally. This research effort includes genetic and epidemiological studies of blinding diseases on the reservations of the federally recognized Native American tribes of the intermountain west (Utah and Nevada). She has also worked with the Mayan population of Salma, Guatemala for genetic epidemiologic factors driving cataract, glaucoma, and pseudoexfoliation syndrome. The success of these studies has been in large part dependent on collaboration across disciplines, and significant community outreach and engagement to inform design and appreciation of the clinical/public health implications of the work.
Dr. DeAngelis is committed to and has extensive experience teaching and mentoring the next generation of scientists and clinician-scientists. She is a mentor and advisor to undergraduates, graduates, medical students, fellows, and junior faculty. She teaches classes for neuroscience, genetics, ophthalmology, biochemistry, molecular biology, and epidemiology. She actively works to foster inclusion and diversity in her work and is a passionate advocate for women and minority voices to be heard and valued in science.
Dr. DeAngelis has over 80 publications, serves on several journal editorial boards, and serves on the steering/leadership committee for the International AMD Genetics Consortium, sponsored by the NEI/NIH; and also the Scientific Oversight Committee for The Global Eye Genetics Consortium (NEI/NIH). She also chairs/serves on several NIH study section review panels, the Department of Defense, and foundation grant review panels.
Education and Training:
- Certificate, statistics, Rockefeller University (2004)
- Fellowship, 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)
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)
Awards and Honors:
- Sigma Xi (2021)
Research Expertise:
- Genetics, Genomics and Bioinformatics
Grants and Sponsored Research:
- May 2020–July 2025
Epigenetic Architecture of the RPE and Choroid: Identification of Therapeutic Targets For AMD
Macular Degeneration Foundation, Inc
Role: Principal Investigator
$500,000 - February 2022–January 2025
Pediatric network for the human cell atlas in the eye
Chan-Zuckerberg
Role: Co-Principal Investigator
$517,500 - February 2022–January 2025
Ancestry Network for the human cell atlas in the eye
Chan-Zuckerberg Initiative
Role: Co-Principal Investigator
$536,859 - October 2020–October 2023
Generation of a human cell neural retina atlas with single cell RNA Seq
Chan-Zuckerberg
Role: Co-Principal Investigator
$345,621 - June 2021–June 2023
Single nucleus chromatin accessibility and transcriptomic characterization of Age-related macular degeneration
Genentech, Inc
Role: Principal Investigator
$942,213 - February 2022
Deconstructing and modeling the single cell architecture of the age-related macular degeneration retina
NEI/NIH
Role: Co-Investigator
$133,446
Journal Articles:
- Feehan M, Owen LA, McKinnon IM, DeAngelis MM. (2021) Artificial Intelligence, Heuristic Biases, and the Optimization of Health Outcomes: Cautionary Optimism. Journal of clinical medicine (Nov), 10(22) doi:10.3390/jcm10225284
- Samra YA, Kira D, Rajpurohit P, Mohamed R, Owen LA, Shakoor A, Kim IK, DeAngelis MM, Sheibani N, Al-Shabrawey M, Tawfik A. (2021) Implication of N-Methyl-d-Aspartate Receptor in Homocysteine-Induced Age-Related Macular Degeneration. International journal of molecular sciences (Aug), 22(17). doi:10.3390/ijms22179356
- Siedlecki AR, Hicks PM, Haaland B, DeAngelis MM, Sieminski SF. (2021) Efficacy of Selective Laser Trabeculoplasty after iStent Implantation in Primary Open-Angle Glaucoma. Journal of personalized medicine (Aug), 11(8). doi:10.3390/jpm11080797
- Hicks PM, Au E, Self W, Haaland B, Feehan M, Owen LA, Siedlecki A, Nuttall E, Harrison D, Reynolds AL, Lillvis JH, Sieminski S, Shulman JP, Barnoya M, Noguera Prera JJ, Gonzalez O, Murtaugh MA, Williams LB, Farkas MH, Crandall AS, DeAngelis MM. (2021) Pseudoexfoliation and Cataract Syndrome Associated with Genetic and Epidemiological Factors in a Mayan Cohort of Guatemala. International journal of environmental research and public health (Jul), 18(14). doi:10.3390/ijerph18147231
- Li S, Datta S, Brabbit E, Love Z, Woytowicz V, Flattery K, Capri J, Yao K, Wu S, Imboden M, Upadhyay A, Arumugham R, Thoreson WB, DeAngelis MM, Haider NB. (2021) Nr2e3 is a genetic modifier that rescues retinal degeneration and promotes homeostasis in multiple models of retinitis pigmentosa. Gene therapy (May), 28(5): 223-241. doi:10.1038/s41434-020-0134-z
- Thornburg CD, Erickson SW, Page GP, Clark EAS, DeAngelis MM, Hartnett ME, Goldstein RF, Dagle JM, Murray JC, Poindexter BB, Das A, Cotten CM, . (2021) Genetic predictors of severe intraventricular hemorrhage in extremely low-birthweight infants. Journal of perinatology : official journal of the California Perinatal Association (Feb), 41(2): 286-294. doi:10.1038/s41372-020-00821-w
- Pan Y, Iejima D, Nakayama M, Suga A, Noda T, Kaur I, Das T, Chakrabarti S, Guymer RH, DeAngelis MM, Yamamoto M, Baird PN, Iwata T. (1900) Binding of Gtf2i-ß/d transcription factors to the ARMS2 gene leads to increased circulating HTRA1 in AMD patients and in vitro. The Journal of biological chemistry (Jan), 296: 100456. doi:10.1016/j.jbc.2021.100456
Presentations:
- "Increasing Diversity of Participants in Genetic Epidemiologic Research Helps Address Health Inequity" Seminar Series, School of Public Health and Health Professions, SUNY-University at Buffalo (2021)
- "Leveraging allele-specific expression as therapeutic targets for age-related macular degeneration" Biochemistry Seminar Series, SUNY-University of Buffalo Jacobs School of Medicine (2021)
- "Systems biology based approach reveals epigenetic mechanisms in ocular disease" ARVO SYMPOSIA: Epigenomics and personalized Medicine: Across the globe (2021)
- "Informing Ocular Drug development through Genomics" Private Industry invited presentation AbbVie/Allergan, (2021)
- "Multi-omic approaches to identify biomarkers and therapeutic targets for AMD" 10th Annual Meeting of Iranian Research Association for Vision and Ophthalmology, Iranian Society of Ophthalmology (2021)
Service Activities:
- Faculty Council Standing Committee, Medical Curriculum Revision Committee, SUNY-University of Buffalo; member Faculty Council Standing Committee, Medical Curriculum Revision Committee, SUNY-University of Buffalo (2021–2024)
- UUP-AMPC, Health Science Centers Concerns Subcommittee Meeting; member (2021–present)
- Journal of Translational Genetics and Genomics, Alhambra, CA; member of editorial board (2021–present)
- Nature Biology Communications; reviewer (2021–present)
- Reviewer for 5 Department of Defense study sections; reviewer (only including service for 2021) (2021–present)
- Nature Communications; reviewer for 3 papers, only including for the year 2021 (2021–present)
- attend all meetings for the SEC and faculty council take minute meetings for approval at the following meeting; Secretary for the faculty council steering committee (2020–2022)
- PRODiG faculty member and mentor (Promoting Recruitment, Opportunity, Diversity and Inclusion and Growth Initiative) SUNY system; member (2020–present)
- Journal of Clinical Medicine, Basel, Switzerland Switzerland; Section Editor in Chief, Ophthalmology (2020–present)
- Exploration of Medicine, New York, NY; Section editor head for Ophthalmology & Otolaryngology (2019–present)
- The Global Eye Genetics Consortium; Member Scientific Oversight Committee (2019–present)
- This committee is designed to provided support and career mentorship to other women particularly trainees and junior faculty in vision reserach; Member, WEAVR Leadership Committee, ARVO (2019–present)
- Frontiers in Molecular Neuroscience, Lausanne, Switzerland; Associate Editor (2018–present)
- Annals of Eye Science, Singapore; member of the editorial board (2018–present)
- Journal of Ophthalmology and Optometry, Auckland, New Zealand; member of editorial board (2016–present)
- Reviewing for this private foundations grant applications and review of progress reports of continued funding. The funding agency supports work on age-related macular degeneration; Review Board panel ( for 2021 only) (2014–present)
- BMC Medical Genomics, London, United Kingdom; member editorial board (2013–present)
- PLoS One, San Francisco, CA; member of the editorial board (2012–present)
- International Consortium for Refractive Error and Myopia (CREAM; sponsored by the NEI/NIH), Bethesda, MD; Executive Committee Member (2012–present)
- An internationally elected position Organize, Plan experiments and collaboration for the International Genomics Age-related Macular Degeneration Gene Consortium (sponsored by the NEI/NIH), Bethesda, MD; Senior Executive Committee/Steering Committee Member (2011–present)
- Australia Macular Degeneration Foundation Research Peer Review Panel, Sydney, Australia; member (2010–present)