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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 Academy of Ophthalmology's Ophthalmic, Federal Advocacy for Ophthalmologists and patients, 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 Association of University Professors of Ophthalmology, National 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 Consortium of Universities for Global Health (CUGH), International 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 Association of Women, International 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 Member, Federal Advocacy for Ophthalmologists and Patients, National 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, National NCI Study Committee, Member, National Neuroscience Graduate Group, Local Ophthalmic Women Leaders, National Ophthalmic World Leaders (OWL), International Ophthalmic World Leaders, International ORBIS, International Penn Forum for Women Faculty, Local Penn Medicine Biobank Committee, Local 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, Ophthalmological Associate Member, National The European Society for Medical Oncology, Associate Member, International The Hospital & Health System Association of Pennsylvania (HAPAC), Local 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.

Key Words
retinoblastoma, melanoma, genetics research, glaucoma

Selected Publications:

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.

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-e91,2018.

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 (5): 1751-1759,2018.

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Ocular Genetics Laboratory