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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.

Medical School: Dartmouth Medical School
Fellowship: Beth Israel Deaconess Medical Center
Fellowship: Massachusetts Eye & Ear Infirmary
Residency: Massachusetts Eye & Ear Infirmary
Fellowship: UCSF Medical Center and Hospital

American Academy of Ophthalmology, National American Association for Cancer Research, National American Association for the Advancement of Science, National American Board of Ophthalmology, National American Medical Women's Association, National American Society of Clinical Oncology, National American Society of Retina Specialists, National Apogean Society - Oculoplastics Society, National Aspen Retinal Detachment Society, National Association for Research in Vision and Ophthalmology - Anatomy/Pathology Section, International California Academy of Sciences, Local California Physicians Alliance, Local Center for Childhood Cancer Research, Local Children's Oncology Group of NCI, National Clinical Research Forum, Local Doris Duke Foundation, National European Organization for Research and Treatment of Cancer, International Faster Cures, A Center of The Milken Institute, National Frederick C. Cordes Eye Society, Local Global Genes Project, National Greater Philadelphia Ophthalmic Society, Local Institute for Translational Medicine and Therapeutics, Local Institute of Medicine, National International College of Surgeons, Fellow, International International Society for Eye Research, International International Society of Ocular Oncology, International International US Surgeon, International Joint European Research Meetings in Ophthalmology and Vision - Ophthalmic Oncology Group, International Massachusetts Medical Society, Local National Alliance for Eye and Vision Research, National National Association of Professional Women (NAPW), National National Association of Professional Women, National National Cancer Institute, International Cancer Information Center, International National Eye Institute, eyeGENE Steering Committee, National NCI Study Committee, Member, National Neuroscience Graduate Group, Local NIH, Member, K Award Study Section, National Ophthalmic Women Leaders, National Penn Forum for Women Faculty, Local Penn Medicine Biobank Committee, Local Phi Beta Kappa, National Phi Beta Kappa, Northern California Association, Local Philadelphia College of Physicians, Local Principal Investigator/Invited Member, National Ophthalmic Disease Genotyping Network (eyeGENE), national Eye Institute, National Research to Prevent Blindness, National Research to Prevent Blindness, Ophthalmologocial Associate Member, National The European Society for Medical Oncology, Associate Member, International The Macula Society, National The Pan-American Association of Ophthalmology, International The Penn Club of New York, Local Union League of Philadelphia, Local Women in Ophthalmology, National

Hospital Privileges:

• Hospital of the University of Pennsylvania: Has privileges to treat patients in the hospital.
• Penn Presbyterian Medical Center: Has privileges to treat patients in the hospital.

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:

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 G, O’Brien JM: Risk factors associated with progression to blindness from primary open-angle glaucoma in an African-American population. Ophthalmic Epidemiol : 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 : 454-71,2016.

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): 2016.

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): 2015.

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 : 2015.

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): 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): 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): 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 : 2805-2813,2012.