Pablo Perez-Pinera is an Associate Professor in Biomedical and Translational Sciences at the Carle Illinois College of Medicine, University of Illinois. He leads the Genome Engineering and Transcriptional Regulation Laboratory, focusing on developing gene editing technologies for treating neurodegenerative and neuromuscular diseases. His research integrates cutting-edge genome engineering tools with innovative delivery systems to address previously incurable conditions. Dr. Perez-Pinera's research interests center on developing CRISPR-based genome editing technologies for therapeutic applications. His laboratory specializes in base editing approaches for exon skipping, particularly targeting diseases like Duchenne muscular dystrophy, Huntington's disease, Parkinson's disease, Alzheimer's disease, and ALS. His team develops novel delivery systems using AAV vectors to enable precise in vivo genome editing, with a particular focus on neurological and muscular disorders. The lab's work bridges fundamental molecular biology with translational applications, aiming to move promising technologies from bench to bedside. His laboratory has made significant contributions to the field of therapeutic genome editing, particularly in developing the SPLICER platform for efficient exon skipping through simultaneous splice site editing. His publications demonstrate expertise in base editing for neurodegenerative diseases, with multiple first-author and corresponding author papers in high-impact journals. His research has been supported by several NIH grants including R01 GM131272, UL1 TR001422, R01 GM141296, among others. Dr. Perez-Pinera actively mentors a diverse team of researchers including postdoctoral fellows, graduate students, and undergraduates. His laboratory includes researchers such as Devyani Swami (Postdoctoral Fellow), Michael Gapinske, Jackson Winter, Shraddha Shirguppe, Angelo Miskalis, and others who contribute to various aspects of genome engineering research. His grant funding supports both basic research on genome editing mechanisms and translational work toward therapeutic applications. The Genome Engineering and Transcriptional Regulation Laboratory maintains state-of-the-art facilities for molecular biology, cell culture, and in vivo studies. The team collaborates extensively with clinicians and researchers across the University of Illinois campus to translate genome editing discoveries into potential therapies for patients suffering from neurodegenerative and neuromuscular conditions.
