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

Kikut A, Vaughn M, Salowe R, Sanyal M, Merriam S, Lee R, Becker E, Lomax-Reese S, Lewis M, Ryan R, Ross A, Cui QN, Addis V, Sankar PS, Miller-Ellis E, Cannuscio C, O’Brien JM: Evaluation of a Multimedia Marketing Campaign to Engage African American Patients in Glaucoma Screening. Preventative Medicine Reports 17 : 2020.

Jubran R, Villablanca J, Krailo M, Piao J, Huang L, O'Brien J, Gombos D, Shields C, Meadows, Chinta MX: 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 and Cancer : 2020.

Verkuil L, Danford I, Pistilli M, Collins DW, Gudiseva VF, Trachtman B, He J, Haider N, Ramakrishnan M, Chavali VRM, O’Brien JM: A SNP (rs4657473), located in an AluJb repeat downstream of TMCO1, is protective for POAG in African Americans. British Journal of Ophthalmology 103 : 1530-36,2019.

Chévez-Barrios P, Eagle Jr RC, Krailo M, Piao J, Albert DM, Gao Y, Vemuganti G, Ali MJ, Khetan V, Honaver SG, O’Brien JM, Leahey, AM, Matthay K, Meadows A, Chintagumpala M: Study of Unilateral Retinoblastoma With and Without Histopathologic High-Risk Features and the Role of Adjuvant Chemotherapy: A Children’s Oncology Group Study. Journal of Clinical Oncology 18 : 2019.

Khachatryan N, Pistilli M, Maguire M, Salowe R, Fertig R, Moore T, Gudiseva HV, Chavali VRM, Collins DW, Daniel E, Murphy W, Henderer JD, Lehman A, Cui Q, Addis V, Sankar P, Miller-Ellis EG, O’Brien JM: Primary Open-Angle African American Glaucoma Genetics (POAAGG) Study: Gender and Risk of POAG in African Americans. PLOS One 14 (8): e0218804,2019.

Addis V, Oyeniran E, Daniel E, Salowe R, Zorger R, Lee R, Pistilli M, Maguire M, Cui Q, Miller-Ellis E, O’Brien JM, Sankar PS: Non-Physician Grader Reliability in Measuring Morphological Features of the Optic Nerve Head in Stereo Digital Images. Nature Eye (London) 33 (5): 838-844,2019.

Gudiseva H, Pistilli M, Salowe R, Singh L, Collins D, Cole B, He J, Sayaka M, Khachataryan N, Henderer J, Addis V, Cui Q, Sankar P, Miller-Ellis E, Chavali V, Ying G, Wallace D, O'Brien J: The Association of mitochondrial DNA haplogroups with POAG in African Americans Experimental Eye Research 181 : 85-89,2019.

Cui QN*, Ramakrishnan MS*, Gudiseva HV, Collins DW, Pistilli M, Lee R, Chavali VM, Lehman A, Addis V, O’Brien JM: Mitochondrial haplogroup L1c2 is associated with increased disease severity in African American patients with primary open angle glaucoma. Journal of Clinical and Experimental Ophthalmology 10 (2): 2019.

Smith JR, Peer J, Belfort RN, Cardoso F, Carvajal RD, Carvalho C, Coupland SE, Desjardins L, Francis JH, Gallie BL, Gombos DS, Grossniklaus HE, Heegaard S, Jager MJ, Kaliki S, Ksander BR, Maeurer M, Moreno E, Pulido JS, Ryll B, Singh AD, Zhao J, Parreira A, Wilson DJ, O'Brien JM: Proceedings of the Association for Research in Vision and Ophthalmology and Champalimaud Foundation Ocular Oncology and Oncogenesis Conference Transl Vis Sci Technol 8 (1): 9,2019.

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 192 : 239-247,2018.

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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