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

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.

Verma SS*, Gudiseva HV*, Chavali VRM, Salowe R, Bradford Y, Guare L, Lucas A, Collins DW, Vrathasha V, Nair RM, Rathi S, Zhao B, He J, Lee R, Zenebe-Gete S, Bowman AS, McHugh CP, Zody MC, Pistilli M, Khachatryan N, Daniel E, Murphy W, Henderer J, Regeneron Genetics Center, Kinzy TG, Iyengar SK, Peachey NS, VA Million Veteran Program, Taylor KD, Guo X, Chen YDI, Zangwill L, Girkin C, Ayyagari R, Liebmann J, Chuka-Okosa CM, Williams SE, Akafo S, Budenz DL, Olawoye OO, Ramsay M, Ashaye A, Akpa OM, Aung T, Wiggs JL, Ross AG, Cui QN, Addis V, Lehman A, Miller-Ellis E, Sankar PS, Williams SM, Ying GS, Cooke Bailey J, Rotter JI, Weinreb R, Khor CC, Hauser MA, Ritchie MD‡, O'Brien JM.‡: A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma Cell 187 (2): 464–480,2024.

Chintagumpala M, Piao J, Gombos D, Chevez-Barrios, P., Brock, L., Dunkel, I. J., Jubran, R., Leahey, AM., Kim, J., O'Brien, J., Shields, C. L., & Rodriguez-Galindo, C.: A multi-institutional feasibility study of intra-arterial chemotherapy in children with retinoblastoma. A Children's Oncology Group study (COG ARET12P1) Pediatric Blood & Cancer 71 (1): 2024.

Salowe RJ, Chen Y, Zenebe-Gete S, Lee R, Gudiseva HV, Di Rosa I, Ross AG, Cui QN, Miller-Ellis E, Addis V, Sankar PS, Daniel E, Ying G, O’Brien JM: Risk factors for structural and functional progression of primary open-angle glaucoma in an African ancestry cohort. BMJ Open Ophthalmology 8 : 2023.

Daniel E, Gao J, Maguire MG, Ying GS, Gudiseva HV, Salowe R, Addis V, Sankar PS, Lee R, Smith EJ, O'Brien J.: Prevalence and factors associated with optic disc grey crescent in the Primary Open-Angle African Ancestry Glaucoma Genetics (POAAGG) Study BMJ Open Ophthalmology 8 (1): 2023.

Mamidipaka A, Di Rosa I, Lee R, Zhu Y, Chen Y, Salowe R, Addis V, Sankar P, Daniel E, Ying GS, O'Brien JM.: Factors Associated with Large Cup-to-Disc Ratio and Blindness in the Primary Open-Angle African American Glaucoma Genetics (POAAGG) Study Genes 14 (9): 1809,2023.

Addis V, Chan L, Chen J, Goodyear K, Pistilli M, Salowe R, Lee R, Sankar P, Miller-Ellis E, Cui Q, Maguire MG, O’Brien JM: Evaluation of the Cirrus HD-OCT Normative Database Probability Codes in an African American Population. Ophthalmology Glaucoma 5 (1): 110-118,2022.

Brodin AC, Tamhankar MA, Whitehead G, MacKay D, Kim BJ, O'Brien JM: Approach of an Academic Ophthalmology Department to Recovery During the Coronavirus Pandemic. Clinical Ophthalmology 16 : 695-704,2022.

Daniel E, Addis A, Maguire MG, McGeehan B, Chen M, Salowe RJ, Zenebe-Gete S, Meer E, Lee R, Smith E, Gudiseva HV, Sankar PS, O’Brien JM: Prevalence and Factors Associated with Optic Disc Tilt in the Primary Open-Angle African American Glaucoma Genetics (POAAGG) Study. Ophthalmology Glaucoma : 2022.

Alapati T, Sagal KM, Gudiseva HV, Pistilli M, Pyfer M, Chavali VRM, O'Brien JM: Evaluating TNF-α and interleukin-2 (IL-2) as biomarkers for Primary Open-Angle Glaucoma in African Americans. Genes 13 : 54,2022.

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Academic 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
Patient appointments: 800-789-7366