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Joan M O'Brien, M.D.

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

Charlson ES, Sankar PS, Miller-Ellis E, Regina M, Fertig R, Salinas J, Pistilli M, Salowe RJ, Rhodes AL, Merritt WT, Chua M, Trachtman BT, Gudiseva HV, Collins DW, Chavali VR, Nichols C, Henderer J, Ying GS, Varma R, Jorgenson E, O'Brien JM.: The Primary Open-Angle African-American Glaucoma Genetics (POAAGG) Study: Baseline Demographics. Ophthalmology Jan 2015 Notes: In press, Epub ahead of print.

Collins DW, Gudiseva H, Trachtman B, Jerrehian M, Gorry T, Merritt WT, Rhodes A, Sankar Prithvi, Regina M, Miller-Ellis E, O'Brien JM.: Mitochondrial Sequence Variation in African-American Primary Open-Angle Glaucoma Patients. PLOS One 8(10), October 2013.

Shah D, Huang J, Ying G, Pietrobon R, O'Brien J: Trends in Female Representation in Published Ophthalmology Literature from 2000-2009. Digital Journal of Ophthalmology 19(4), September 2013.

Sachidanandam R, Krishnakumar S, Gopal L, O'Brien JM, Khetan V, Sen P.: Full-field electroretinography under general anesthesia in retinoblastoma. Doc Ophthalmol 126(2), January 2013.

Bejjani A, Choi M, Cassidy L, Collins D, O'Brien J, Murray T, Ksander B, Seigel G.: RB116: An RB+ retioblastoma cell line expressing primitive markers. Molecular Vision 2012 18: 2805-2813, November 2012.

Rauschecker AM, Patel CV, Yeom KW, Eisenhut CA, Gawande RS, O'Brien JM, Ebrahimi KB, Daldrup-Link HE: High-resolution MR imaging of the orbit in patients with retinoblastoma. Radiographics 32(5), October 2012.

Khurana A, Eisenhut CA, Wenshua W, Ebrahimi K, Patel C, O'Brien JM, Yeom K, Daldrup-Link H: Comparison of the Diagnostic Value of MR Imaging and Ophthalmoscopy for the Staging of Retinoblastoma. European Society of Radiology October 2012.

Shields C, Ganguly A, O'Brien J, Sato T, Shields J: Uveal Melanoma Trapped in the Temple of Doom. American Journal of Ophthalmology. Elsevier, 154: 219-221, August 2012.

Zheng Y, VanderBeek B, Xiao R, Daniel E, Stambolian D, Maguire M, O'Brien J, Gee J: Retrospective illumination correction of retinal fundus images from gradient distribution sparsity. Biomedical Imaging (ISBI), 2012 9th IEEE International Symposium on IEEE. Page: 972-975, May 2012.

Sachdeva U, O'Brien J: Understanding pRb: toward the necessary development of targeted treatments for retinoblastoma. Journal of Clinical Investigation 122(2): 425-434, February 2012.

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Last updated: 08/04/2015
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