Research Project 4: Stefano Berto, PhD

Dr. Berto has over 10 years of experience in bioinformatic and computational methods applied to next generation sequencings, and his proposed independent research will span human and animal models. His innovative CNDD project expands upon an exciting discovery that the ASD and ID risk gene, IL1RAPL2, expression in temporal lobe co-vary with cortical oscillations associated with memory functions in human. He will examine the novel functions of IL1RAPL2 in both a human iPSC-based model and in mutant mice to understand whether IL1RAPL2 affect behaviors and cortical neuronal circuits associated with both ASD and memory. His project utilizes the CNDD Cores, and he will leverage the extensive electrophysiology and circuit analysis experience of his primary mentor, Dr. Lori McMahon. His external mentor is Dr. Genevieve Konopka from UT Southwestern. Specific contribution to CNDD: Dr. Berto provides a critical expertise in modern genomics analyses, and as such, is an ideal Associate Director of the GBC. He seeks to leverage the CNDD resources to create a truly multidisciplinary research program, and his work aligns well with Drs. Cowan, Ewoud Schmidt, and many others, and his focus on human iPSC-derived neurons provide an important expansion of the scope of research at MUSC.