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

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.

Salowe R, Lee R, Zenebe-Gete S, Vaughn M, Gudiseva H, Kikut A, Becker E, Collins DW, He J, Merriam S, Mulvihill K, Laberee N, Lomax-Reese S, Murphy W, Henderer J, Chavali VRM, Cui Q, Ross AG, Addis V, Sankar PSS, Miller-Ellis E, Maguire M, O'Brien J: Recruitment Strategies and Lessons Learned from a Large Genetic Study of African Americans PLOS Global Public Health : 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.

Meer E, Nguyen BJ, Tapino PJ, O'Brien JM, Choi D, Addis V: Assessing the Efficacy of 3D-printed Ear Protectors on Mask Adherence at an Academic Ophthalmology Center. Indian Journal of Ophthalmology 70 (2): 635-640,2022.

Addis V, Chen M, Zorger R, Salowe R, Daniel E, Lee R, Pistilli M, Gao J, Maguire MG, Chan L, Gudiseva HV, Zenebe-Gete S, Merriam S, Smith EJ, Martin R, Ostroff CP, Gee JC, Cui QN, Miller-Ellis E, O’Brien JM, Sankar PS: A Precise Method to Evaluate 360 Degree Measures of Optic Cup and Disc Morphology in an African American Cohort and its Genetic Applications Genes 12 (12): 1961,2021.

Zenebe-Gete S, Salowe R, O’Brien JM: Benefits of Cohort Studies in a Consortia-Dominated Landscape Frontiers in Genetics 12 : 2476,2021.

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.

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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