Claudio Punzo, PhD

Dr. Claudio Punzo was born in Basel, Switzerland. He received his PhD degree from the University of Basel, working on Drosophila eye development in the laboratory of Dr. Walter J. Gehring. This thesis work addressed the function of the evolutionary conserved transcription factor Pax-6, a master control gene of eye development that contains two DNA-binding domains. Mutations in Pax-6 cause eye abnormalities in humans. Dr. Punzo’s studies have contributed to the understanding of why most of these mutations that cause eye abnormalities in humans are located only in one of the two DNA-binding domains of Pax-6. After completion of his thesis, Dr. Punzo joined the laboratory of Dr. Constance L. Cepko in the Department of Genetics at Harvard Medical School for a post-doctoral fellowship on retinal degeneration. In Dr. Cepko’s laboratory, he initiated a new line of research based on his interests in retinal degeneration, specifically retinitis pigmentosa. Retinitis pigmentosa is an inherited disorder that affects cone and rod photoreceptors, leading to progressive vision loss. Interestingly, most mutations that cause retinitis pigmentosa are in genes that are exclusively expressed in rods, however, cones die too. Dr. Punzo's studies on retinitis pigmentosa led to the proposal of a new model that explains why cones depend on rods for their survival. In 2010, Dr. Punzo joined the Ophthalmology Department at the University of Massachusetts Medical School as an assistant professor to continue to work on retinitis pigmentosa and to lead his own independent research group. Recently, Dr. Punzo has expanded his research interests into the field of AMD, a disease he believes may be caused by photoreceptors. (For updates on his research visit Dr. Punzo's website at: http://www.umassmed.edu/punzolab/.)