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.
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.
retinoblastoma, melanoma, genetics research, glaucoma
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.
Collins D, Salowe R, Pleet A, Salinas J, Rhodes AL, Merritt W III, Natesh V, Huang J, Gudiseva H, Chavali V, Tapino PJ, Lehman A, Miller E, Sankar P, Ying G-S, O'Brien JM: Risk factors associated with progression to blindness from primary open-angle glaucoma in an African-American population. Ophthalmic Epidemi : 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.