Santa Tumminia, Ph.D. is the Deputy Director of the National Eye Institute (NEI). Dr. Tumminia is experienced in basic, clinical and translational research, and executive-level management in government, non-profit and corporate environments.
Dr. Tumminia earned her Ph.D. in Biology from Rensselaer Polytechnic Institute in 1987. Following postdoctoral training in the Department of Biochemistry at the Roche Institute of Molecular Biology, Hoffman La-Roche, Inc., where she examined the protein-nucleic acid interactions involved in ribosome assembly, Dr. Tumminia joined the NEI Laboratory of Mechanisms of Ocular Diseases, where her research focus was on the mechanisms of ocular diseases, specifically, glaucoma and cataract formation. While at the NEI, she studied cataract formation caused by oxidative stress and in transgenic mice caused by the HIV-1 protease linked to a lens crystallin promoter. She studied the efficacy of anti-cataract agents as well as HIV-1 protease inhibitors. She also developed a model system to mimic the effects of glaucoma using a self-designed mechanical stretch device. She transitioned to the Foundation Fighting Blindness (FFB), the largest non-government funder of retinal disease research. At FFB, she held several positions eventually becoming Director of Grants and Awards overseeing the entire grant portfolio of the foundation.
Dr. Tumminia returned to NEI in the Office of the Director in 2003 serving in various positions of increasing responsibility. She provides leadership and scientific expertise on NEI policies and initiatives and manages projects and programs involving both intramural and extramural activities.. She has expertise in a wide range of vision research issues and policies related to NEI’s trans-NIH programs in genetics and genomic medicine, behavioral science, angiogenesis, nanomedicine, translational science and rare diseases. She has developed policies to foster strategic partnerships with stakeholders including industry, patient advocacy groups, and individuals impacted by vision loss.
Dr. Tumminia successfully brings nascent science-driven concepts through to implementation. She has been key in formulating policies on new basic and clinical research concepts and initiatives, such as the NEI Audacious Goals Initiative. She designed, implemented and oversees the rare inherited eye disease initiative, the National Ophthalmic Disease Genotyping and Phenotyping Network or eyeGENE®. This vision genomic medicine initiative is a public private partnership launched in 2006 that bridges advances in ophthalmic disease gene identification to clinical care management and facilitates research and treatment efforts. Under her leadership, NEI developed network partnerships with extramural scientists, eye health care providers in North America, private industry, and individuals affected by rare eye disease in support of broad clinical research initiatives. Because eyeGENE® is a vision community resource, patients have had greater access to diagnostic gene testing and genetic information. Clinicians and researchers also have access to diagnostic genetic testing; centralized specimen collection, processing, and biobanking services, standardized phenotypic descriptors; and a shared database of de-identified genotype/phenotype information.
Dr. Tumminia has served on many trans-NIH committees, and is a member of several prominent professional societies. She has received numerous awards including the NIH Director’s Awards for the NIH-wide Strategic Plan Working Group and the eyeGENE® Initiative. In 2018, she received the NIH Director’s Award in Mentoring.
Dr. Tumminia is known internationally and respected as a distinguished individual of outstanding scientific competence and administrative capability. Recently, Dr. Tumminia has taken a lead role in stem cell and regenerative medicine programs at the NEI. She has also been involved in the launch of the new Age-Related Macular Degeneration (AMD) Systems Biology Program. Through her leadership, NEI has developed partnerships with eye health care providers, private industry, patient constituencies and extramural scientists who support broad research initiatives.