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

Ayala M, Zetterberg M, Skoog I, Zettergren A: Association of Single Nucleotide Polymorphisms Located in LOXL1 with Exfoliation Glaucoma in Southwestern Sweden Genes 12 : 1384,2021.

Kim CD, Gudiseva HV, McGeehan B, Daniel E, Ying GS, Chavali VRM, O’Brien JM: Association of the SNP rs112369934 near TRIM66 Gene with POAG Endophenotypes in African Americans. Genes 12 (9): 1420,2021.

Elana Meer, Vivian L Qin, Harini V. Gudiseva, Brendan McGeehan, Rebecca Salowe, Maxwell Pistilli, Jie He, Ebenezer Daniel, Gui-Shuang Ying, Venkata RM Chavali, Joan M O’Brien: LMX1B locus Associated with Low-Risk Baseline Glaucoma-tous Features in the POAAGG Study Genes 12 (8): 1252,2021.

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 128 (7): 981-992,2021.

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 : S2589-4196,2021.

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.

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 19 : 1-10,2020.

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 67 (9): e28502,2020.

Sonika Rathi, Ian Danford, Harini V Gudiseva, Lana Verkuil, Maxwell Pistilli, Sushma Vishwakarma, Inderjeet Kaur, Tarjani Dave, Joan M O'Brien, Venkata R M Chavali: Molecular Genetics and Functional Analysis Implicate CDKN2BAS1-CDKN2B Involvement in POAG Pathogenesis Cells 21 (9): 1934,2020.

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 10 (1): 11828,2020.

View all publications

Academic Contact Information

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