Kate engages Dr. Luigi Boccuto, Associate Professor at Clemson University, about his work studying genes other than SHANK3 and their impact in Phelan-McDermid syndrome. They highlight a recent publication authored by Dr. Boccuto, Dr. Andy Mitz, and Dr. Audrey Thurm, linked below. Dr. Boccuto describes how multiple genes in the 22q13 region, when altered, can have overlapping impacts on neurodevelopment. Understanding the importance of each of these genes can help improve the management and treatment of Phelan-McDermid syndrome long-term as clinical care moves more towards personalized medicine.
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