Faculty

Joan M O'Brien, M.D.

Harold G. Scheie-Nina C. Mackall Research Professor of Ophthalmology

Department: Ophthalmology

Graduate Group Affiliations

Neuroscience

Contact information

University of Pennsylvania
One uCity Square
Penn Medicine Center for Genetics of Complex Disease
25 N 38th St, Suite 3107
Philadelphia, PA 19104

Publications

Search PubMed for articles

Education:
BA
Middlebury College, Middlebury, VT, 1979.
MD
Dartmouth Medical School, Hanover, NH, 1986.

Links
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Permanent link

> Perelman School of Medicine > Faculty > Details

Description of Research Expertise

Joan O’Brien, M.D., is Director of the Penn Medicine Center for Genetics of Complex Disease and Chairman Emeritus of the UPenn Ophthalmology Department. With over 25 years of genetic research experience, Dr. O’Brien has authored more than 275 publications. Elected to the National Academy of Medicine, one of the highest honors a physician can receive, Dr. O’Brien has received numerous awards, including the AAO's Secretariat Award, the USC Keck School of Medicine's Laureate Award, and the Retina Research Foundation's Gertrude D. Pyron Award for Lifetime Research Achievement. She is currently PI of the $17.85M NEI-funded POAAGG Study, which has enrolled 10,255 Black individuals from Philadelphia, with GWAS data on 7765, whole-exome data on 8500, and whole-genome data on 100. Dr. O’Brien is expanding the scope of her research beyond ocular diseases to include other diseases that disproportionately affect Black individuals.

Key Words genomics, genetics research, ocular diseases

Selected Publications

Ramachandran R, Lu MC, Niziol LM, Woodward MA, Elam AR, Johnson L, Kershaw M, Musch DC, Bicket A, John D, Dougherty Wood S, Zhang A, Zhang J, O'Brien J, Newman-Casey PA.: Performance of Optic Disc Optical Coherence Tomography Normative Database in a Large, Diverse, Real-World Cohort. Journal of glaucoma 34(5): 404–414, May 2025.

Mamidipaka A, Shi A, Lee R, Zhu Y, Chen Y, Di Rosa I, Salowe R, Ying GS, O'Brien JM.: Socioeconomic and environmental factors associated with glaucoma in an African Ancestry Population: findings from the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study. Eye (London, England) April 2025.

Di Rosa I, Halimitabrizi M, Salowe R, Augello P, Zhu D, Chen Y, Sankar P, Addis V, Ying GS, O'Brien J.: Low Body Mass Index Poses Greater Risk of Primary Open-Angle Glaucoma in African Ancestry Individuals. American journal of ophthalmology March 2025.

Mamidipaka A, Shi A, Addis V, He J, Lee R, Di Rosa I, Salowe R, Ying GS, O'Brien J.: Outcomes of Trabeculectomy and Predictors of Success in Patients of African Ancestry With Primary Open Angle Glaucoma. Journal of glaucoma February 2025.

Trang KB, Pahl MC, Pippin JA, Su C, Littleton SH, Sharma P, Kulkarni NN, Ghanem LR, Terry NA, O'Brien JM, Wagley Y, Hankenson KD, Jermusyk A, Hoskins JW, Amundadottir LT, Xu M, Brown KM, Anderson SA, Yang W, Titchenell PM, Seale P, Cook L, Levings MK, Zemel BS, Chesi A, Wells AD, Grant SFA.: 3D genomic features across >50 diverse cell types reveal insights into the genomic architecture of childhood obesity. Elife January 2025.

Mamidipaka A, Di Rosa I, Chen Y, Salowe R, Zhu Y, Addis V, Sankar P, Daniel E, Ying GS, O'Brien J.: Optic cup morphology associated with glaucomatous damage: Findings from the Primary Open-Angle African American Glaucoma Genetics (POAAGG) Study. AJO international 1(3), October 2024.

Sapir T, Augello P, Lee R, McCoskey M, Salowe R, Addis V, Sankar P, Ying GS, O'Brien JM. : Primary Open-Angle Glaucoma Is Associated with Short-Term Memory Decline and Dementia in Individuals of African Ancestry. Journal of clinical medicine 13(14): 4140, July 2024.

Zhao B, Li Y, Fan Z, Wu Z, Shu J, Yang X, Yang Y, Wang X, Li B, Wang X, Copana C, Yang Y, Lin J, Li Y, Stein JL, O'Brien JM, Li T, Zhu H.: Eye-brain connections revealed by multimodal retinal and brain imaging genetics. Nature communications 15(1): 6064, July 2024.

Sripinun, P., See, L. P., Nikonov, S., Chavali, V. R. M., Vrathasha, V., He, J., O'Brien, J. M., Xia, J., Lu, W., & Mitchell, C. H.: Piezo1 and Piezo2 channels in retinal ganglion cells and the impact of Piezo1 stimulation on light-dependent neural activity. bioRxiv 2024.

Jordan JA, Daniel E, Chen Y, Salowe R, Zhu Y, Miller-Ellis E, Addis V, Sankar PS, Zhu D, Smith E, Lee R, Ying GS, O’Brien JM.: Features Associated with Visible Lamina Cribrosa Pores in Individuals of African Ancestry with Glaucoma: Primary Open-Angle African Ancestry Glaucoma Genetics (POAAGG) Study Vision (Basel, Switzerland) 8(2), 2024.