Dr. Claudio Punzo is an Associate Professor at the University of Massachusetts Medical School (UMMS), in Worcester, MA. Dr. Punzo graduated from the University of Basel with a B.S. and PhD in Cell Biology working on Drosophila eye development. After his PhD Dr. Punzo joined the laboratory of professor Constance Cepko for a post-doctoral training at Harvard Medical School. In Dr. Cepko’s laboratory he initiated a new research direction based on his interest in retinal degeneration. During his post-doctoral training Dr. Punzo published a seminal finding in which he proposed a new model for why cone photoreceptors die in inherited retinal degenerative disease, when the mutation is in a rod photoreceptor specific gene. In 2010, Dr. Punzo joined the University of Massachusetts Medical School as assistant professor. His laboratory continues to focus on his postdoctoral work of prolonging cone photoreceptor survival in inherited retinal degenerative diseases. In particular, the lab focuses on understanding how a metabolic imbalance in photoreceptors affects photoreceptor survival during disease and how this deficit can be overcome in order to prolong cone photoreceptor survival. Recently, Dr. Punzo has also started to work on age-related macular degeneration as he believes that aberrant photoreceptor metabolism may be the underlying cause for the development of this disease. With this idea in mind Dr. Punzo generated a new animal model of age-related macular degeneration. With funding from the BrightFocus Foundation he has characterized this new animal model and found that it recapitulates all major disease hallmarks. The study was published in PNAS in May of 2020. This new model will allow for the first time to study the efficacy of new therapeutic drugs. At the same time this new model will allow also studying the underlying disease mechanism in AMD, in order to develop new therapeutic strategies. With new funding from the BrightFocus Foundation Dr. Punzo is now also trying to understand why smoking confers the highest non-genetic risk for the development of AMD.
University of Massachusetts Medical School