Description of Research Expertise

Dr. Joan O’Brien has extensive expertise in the study of the genetics of ocular diseases including retinoblastoma, melanoma and glaucoma. Dr. O’Brien’s laboratory has identified numerous unique pathogenic variants in the retinoblastoma gene (RB1). This testing has allowed retinoblastoma therapy to be directed according to underlying genetic risk, and is offered nationwide at no charge to patients through NEI’s eyeGENE™ initiative. Dr. O’Brien directs a research laboratory with next generation sequencing and high-throughput, automated Sanger sequencing capabilities, which focuses on translational genetics research with an emphasis on molecular sub-classification and endophenotyping of ocular disease. Currently, Dr. O’Brien is the primary investigator on an $11.25 million 5-year Primary Open Angle African American Glaucoma Genetics (POAAGG) study.

Clinical Trials
Dr. O’Brien has 15 years of National Cancer Institute funded leadership roles in clinical trials and phenotype validation for all retinoblastoma studies administered through the Children’s Oncology Group (COG). Over the past five years, in collaboration with colleagues at UCSF, the group has discovered and characterized two novel oncogenes (GNAQ, Nature 2009 and GNA11, NEJM 2010) which regulate the MAP kinase pathway. This has allowed Dr. O’Brien’s uveal melanoma patients to have personalized and targeted therapy with MEK inhibitors, providing prolongation of life for these patients with widely metastatic melanoma.

Key Words
retinoblastoma, melanoma, genetics research, glaucoma

Selected Publications

Cole BS, Gudiseva HV, Pistili M, Salowe R, McHugh CP, Zody MC, Chavali VRM, Ying GS, Moore JH, O’Brien JM: The role of genetic ancestry as a risk factor for primary open-angle glaucoma in African Americans. Invest Ophthalmol Vis Sci 62 (2): 28,2021.

Vu TA, Fenwick EK, Gan AT, Man RE, Tan BK, Gupta P, Ho KC, Reyes-Ortiz CA, Trompet S, Gussekloo J, O'Brien JM, Mueller-Schotte S, Wong TY, Tham YC, Cheng CY, Lee AT, Rait G, Swenor BK, Varadaraj V, Brenowitz WD, Medeiros FA, Naël V, Narasimhalu K, Chen CL, Lamoureux EL: The Bidirectional Relationship Between Vision and Cognition: A Systematic Review And Meta-Analysis. Ophthalmology : 2020.

Kikut A, O'Brien J, Mohima S, Salowe R, Vaughn M, Sankar P, Miller E, Ross A, Cui Q, Addis V: Learning from Black/African American Participants: Applying the Integrated Behavioral Model to Assess Recruitment Strategies for a Glaucoma Genetic Study. Health Communication : 2020.

O'Brien JM: Association between Primary Open-Angle Glaucoma and Cognitive Impairment as Measured by the Montreal Cognitive Assessment. Journal of Ophthalmology : 2020.

Jubran RF, Villablanca JG, Krailo M, Piao J, Huang L, Murphree L, O'Brien J, Gombos D, Shields CL, Meadows A, Chintagumpala M: A single-arm study of systemic and sub-Tenon chemotherapy for Groups C and D intraocular retinoblastoma, A Children's Oncology Group study (ARET 0231) Pediatric Blood & Cancer : 2020.

Chavali VRM, Mills J, Sergei N, Haider N, Rathi S, Vrathasha V, Alapati T, He J, Thuong T, McDougald D, O'Brien J: Dual SMAD inhibition and Wnt inhibition enable efficient and reproducible differentiations of induced pluripotent stem cells into retinal ganglion cells. Scientific Reports : 2020.

Kikut A, Vaughn M, Salowe R, Sanyal M, Merriam S, Lee R, Becker E, Lomax-Reese S, Lewis M, Ryan R, Ross A, Cui QN, Addis V, Sankar PS, Miller-Ellis E, Cannuscio C, O’Brien JM: Evaluation of a Multimedia Marketing Campaign to Engage African American Patients in Glaucoma Screening. Preventative Medicine Reports 17 : 2020.

Verkuil L, Danford I, Pistilli M, Collins DW, Gudiseva VF, Trachtman B, He J, Haider N, Ramakrishnan M, Chavali VRM, O’Brien JM: A SNP (rs4657473), located in an AluJb repeat downstream of TMCO1, is protective for POAG in African Americans. British Journal of Ophthalmology 103 : 1530-36,2019.

Chévez-Barrios P, Eagle Jr RC, Krailo M, Piao J, Albert DM, Gao Y, Vemuganti G, Ali MJ, Khetan V, Honaver SG, O’Brien JM, Leahey, AM, Matthay K, Meadows A, Chintagumpala M: Study of Unilateral Retinoblastoma With and Without Histopathologic High-Risk Features and the Role of Adjuvant Chemotherapy: A Children’s Oncology Group Study. Journal of Clinical Oncology 18 : 2019.

Khachatryan N, Pistilli M, Maguire M, Salowe R, Fertig R, Moore T, Gudiseva HV, Chavali VRM, Collins DW, Daniel E, Murphy W, Henderer JD, Lehman A, Cui Q, Addis V, Sankar P, Miller-Ellis EG, O’Brien JM: Primary Open-Angle African American Glaucoma Genetics (POAAGG) Study: Gender and Risk of POAG in African Americans. PLOS One 14 (8): e0218804,2019.

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Academic Contact Information

University of Pennsylvania
Scheie Eye Institute
Department of Ophthalmology
51 N. 39th Street
Philadelphia, PA 19104
Patient appointments: 800-789-7366