Our Director

Drawing on decades of expertise in ocular genetics, Dr. O'Brien serves as the Director of the Penn Medicine Center for Genetics of Complex Disease and as the Nina C. Mackall Professor of Ophthalmology at the Perelman School of Medicine. 

Originally from Boston, Dr. O'Brien graduated summa cum laude from Middlebury College as valedictorian. She went on to obtain her medical degree at Dartmouth Medical School, where she was awarded the Dean's Medal as the outstanding graduating senior. Dr. O'Brien completed her internship in internal medicine at Beth Israel Hospital, followed by research fellowships in immunology at Harvard Medical School and in molecular ophthalmic pathology at Massachusetts Eye and Ear Infirmary and the Whitehead Institute at MIT. Dr. O'Brien subsequently completed an ophthalmology residency at Massachusetts Eye and Ear Infirmary and an ocular oncology fellowship with orbital and oculoplastics training at the University of California, San Francisco (UCSF).

Dr. O'Brien was then appointed as an Assistant Professor at UCSF, where she remained for 17 years. After only five years, she achieved tenure. During her time at UCSF, Dr. O'Brien served as the Director of the ocular oncology unit, receiving world-wide referrals for cancer to the eye and ocular adnexa. She was also appointed Vice Chair for Medical Student Education and was elected to the Haile T. Debas Academy of Medical Educators. Dr. O'Brien also directed an NEI-funded CLIA laboratory, which focused on ocular genetics research. This research has advanced diagnostic and treatment options for several diseases. Working with Boris Bastian's lab at UCSF, Dr. O'Brien discovered and characterized two novel oncogenes (GNAQ and GNA11) in uveal melanoma, which were published in Nature and New England Journal of Medicine. Dr. O'Brien also identified numerous unique pathogenic variants in the retinoblastoma gene (RB1). The resultant genetic testing, which allowed retinoblastoma therapy to be directed according to underlying genetic risk, was offered nationwide at no charge through NEI's eyeGENE™ initiative.

Dr. O'Brien joined the University of Pennsylvania in 2010, when she was named the Chairman of the Ophthalmology Department and Director of the Scheie Eye Institute. In 2013, Dr. O'Brien was elected to Institute of Medicine, now the National Academy of Medicine, one of the highest honors a physician can receive. In recent years, she has received the AAO's Secretariat Award, the USC Keck School of Medicine's Laureate Award, and the Retina Research Foundation's Gertrude D. Pyron Award for Lifetime Research Achievement. In 2018, she was inducted into the American Ophthalmological Society, an honor society for ophthalmologists. Dr. O'Brien has been recognized as a top ophthalmologist by U.S. News & World Report, Newsweek, Philadelphia Magazine, and Castle Connolly; as a top cancer doctor by Newsweek and Philadelphia Magazine; and as an elected member of Who's Who in America. Throughout her career, she has authored more than 275 publications.

In addition to her contributions while Chair, Dr. O'Brien is the Principal Investigator on the large-scale, NIH-funded Primary Open Angle African American Glaucoma Genetics (POAAGG) Study, a genetics study on glaucoma in African ancestry individuals. As Director of the Center, she continues her important and collaborative research on glaucoma and other complex diseases.