Joan M O'Brien, M.D.

faculty photo
William F. Norris and George E. de Schweinitz Professor of Ophthalmology
Department: Ophthalmology
Graduate Group Affiliations

Contact information
University of Pennsylvania
Scheie Eye Institute
Department of Ophthalmology
51 N. 39th Street
Philadelphia, PA 19104
Middlebury College, Middlebury, VT, 1979.
Dartmouth Medical School, Hanover, NH, 1986.
Permanent link

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.

retinoblastoma, melanoma, genetics research, glaucoma

Selected Publications

Fuerst N, Watson J, Langelier N, Atkinson RE, Ying G, Pan W, Palladino V, Russell C, Lin V, Tapino P, O'Brien JM: Breaking Bad: An Assessment of Ophthalmologists' Interpersonal Skills and Training on Delivering Bad News. Journal of Academy of Ophthalmology 10: e-83-e91, July 2018.

Danford I, Verkuil L, Choi D, Collins D, Guidseva H, Uyhazi K, Lau, Marisa, Kanu L, Grant G, Chavali V, O'Brien, JM.: Characterizing the “POAGome”: A bioinformatics-driven approach to primary open-angle glaucoma. Proq Retin Eye Res. 58: 89-114, May 2018.

Kikut, A, O'Brien J: A Collaborative Community Model for Including Minorities in Genetic Research. JAMA Ophthalmology March 2018.

1. Collins DW, Gudiseva HG, Chavali VRM, Trachtman B, Ramakrishnan M, Merritt WT, Pistilli M, Rossi RM, Blachon S, Sankar P, Miller-Ellis E, Lehman A, Addis V, O’Brien JM: The MT-CO1 V83I polymorphism is a risk factor for primary open-angle glaucoma in African American men. IOVS 59: 1751-1759, March 2018.

O'Brien JM, Salowe R, Fertig R, Salinas J, Pistilli M, Sankar P, Miller-Ellis, E, Lehman A, Murphy W, Homsher M, Gordon K, Ying, G.: Family History in the Primary Open-Angle African American Glaucoma Genetics Study Cohort. American Journal of Ophthalmology March 2018.

Parik RN, Sandhu HS, Massaro-Giordano G, Goldstein SM, O'Brien JM.: Benign Reactive Lymphoid Hyperplasia of the Conjunctiva Treated with Cyclosporine. Cornea Nov 2017.

Salowe R, O'Keefe L, Merriam S, Lee R, Khachatryan N, Sankar P, Miller-Ellis E, Lehman A, Addis V, Murphy W, Henderer J, Maguire M, O'Brien J.: Cost and yield considerations when expanding recruitment for genetic studies: the primary open-angle African American glaucoma genetics study. BMC Medical Research Methodology July 2017.

Sankar PS, Keefe LO, Choi D, Salowe R, Miller-Ellis E, Lehman A, Addis V, Ramakrishnan M, Natesh V, Whitehead G, Khachatryan G, O'Brien J: The SCHEIE Visual Field Grading System. J Clin Exp Ophthalmol 8(3), May 2017.

O’Brien JM, Salowe RJ, Fertig R, Salinas J, Pistilli M, Sankar PS, Miller-Ellis E, Lehman A, Murphy W, Homsher M, Gordon K, Ying G: Family History in the Primary Open-Angle African American Glaucoma Genetics Study Cohort. Transactions of the American Ophthalmological Society. In press 2017.

Parikh R, Okeefe L, Salowe R, Mccoskey M, Wei Pan W, Sankar P, Miller-Ellis E, Addis V, Lehman A, Maguire MG, O'Brien JM: Factors Associated with Participation by African Americans in a Study of the Genetics of Glaucoma. Ethnicity and Health 2017 Notes: In Press.

back to top
Last updated: 09/20/2018
The Trustees of the University of Pennsylvania