Joan M O'Brien, M.D.

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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
Education:
BA
Middlebury College, Middlebury, VT, 1979.
MD
Dartmouth Medical School, Hanover, NH, 1986.
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Description of Clinical Expertise

Dr. O’Brien cares for patients at the Scheie Eye Institute. She specializes in the treatment of ocular tumors, including retinoblastoma, ocular melanoma, conjunctival malignancies, ocular metastases, and ocular and CNS lymphoma.

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.

Keywords
retinoblastoma, melanoma, genetics research, glaucoma

Selected Publications

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.

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.

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 2017.

Pleet A, Sulewski M, Salowe RJ, Fertig R, Salinas J, Rhodes A, Merritt III W, Natesh V, Huang J, Gudiseva HV, Collins DW, Chavali VRM, Tapino P, Lehman A, Regina-Gigiliotti M, Miller-Ellis E, Sankar P, Ying GS, O'Brien JM: Risk Factors Associated with Progression to Blindness from Primary Open-Angle Glaucoma in an African-American Population. Ophthalmic Epidemiology 23(4): 248-56, Aug 2016.

Collins DW, Gudiseva HV, Trachtman B, Bowman AS, Sagaser A, Sankar P, Miller-Ellis E, Lehman A, Addis V, O'Brien JM: Association of primary open-angle glaucoma with mitochondrial variants and haplogroups common in African Americans. Molecular Vision 22: 454-71, May 2016.

Gudiseva HV, Hansen M, Gutierrez L, Collins DW, He J, Verkuil L, Danford ID, Sagaser A, Bowman AS, Salowe R, Sankar PS, Miller-Ellis E, Lehman A, O'Brien JM: Saliva DNA quality and genotyping efficiency in a predominantly elderly population. BMC Medical Genomics 9(17), Apr 2016.

O'Brien JM et al: Systemic Neoadjuvant Chemotherapy for Group B Intraocular Retinoblastoma: ARET0331: A Report from the Children’s Oncology Group. Pediatric Blood & Cancer 2016 Notes: Accepted for Publication.

Salowe RJ, Sankar P, Miller-Ellis E, Pistilli M, Ying G-S, O'Brien JM: The Role of Ophthalmology Departments in Overcoming Health Care Disparities. The Journal of Epidemiological Research 2(1): 25-8, 2016.

Salowe R, Salinas J, Farbman N, Mohammed A, Warren J, Rhodes A, Brucker A, Regina M, Miller-Ellis E, Sankar P, Lehman A, O'Brien JM: Primary Open-Angle Glaucoma in Individuals of African Descent: A Review of Risk Factors. Journal of Clinical and Experimental Ophthalmology 6(4), Aug 2015.

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Last updated: 11/13/2017
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