SCN2A-mediated autism and epilepsy: from mouse and hiPSCs models to genetic medicine

Abstract:
Genetic mutation in SCN2A has been found to be a leading cause of monogenic autism and epilepsy. SCN2A encodes the voltage-gated sodium channel Nav1.2, a key mediator of neuronal action potential firing in the brain. In this lecture, Dr. Yang will discuss how SCN2A deficiency and genetic mutation affect neuronal and circuit functions as well as animal behaviors in disease models. Dr. Yang will also discuss the development of potential genetic medicine, including gene augmentation therapy and advanced CRISPR Prime Editing for disease interventions of SCN2A-related brain disorders.

About the Speaker:
Yang Yang, Ph.D. is currently the Jack and Barbara McCoy associate professor in the Borch Department of Medicinal Chemistry and Molecular Pharmacology at Purdue University. Dr. Yang graduated with dual bachelor’s degrees from Shanghai University, and completed a Ph.D. degree at Georgia State University. He did postdoctoral training in Dr. Stephen Waxman’s lab at Yale University School of Medicine. Dr. Yang started his independent lab at Purdue University in 2017 as a tenure-track assistant professor and was promoted to associate professor with tenure in 2023. Dr. Yang was named the McCoy endowed Rising Star Professor in 2024.

Yang lab studies genetic neurological diseases, including autism, epilepsy, pain, and dementia with both mouse models and human induced pluripotent stem cells (hiPSCs) derived neurons, microglia, and brain organoid models. The current focus of the Yang lab is voltage-gated sodium channel Nav1.2 (SCN2A) and its related autism and epilepsy. The lab is also developing next-generation therapeutics to treat these monogenic neurological diseases. The Yang lab is funded by two NIH R01 awards, as well as private foundations, including the FamiliesSCN2A Foundation. Dr. Yang’s works were published in Cell Reports, Nature Communications, Molecular Psychiatry, and the Journal of Neuroscience among others.

Contact

  Yingwei Mao
  yzm1@psu.edu