SCN2A-Related Autism and Epilepsy: From Molecular and Circuit Mechanisms to Genetic Medicines
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Yang Yang, Ph.D.
Jack and Barbara McCoy associate professor in the Department of Medicinal Chemistry and Molecular Pharmacology
Purdue University College of Pharmacy; HHMI
Yang Yang, Ph.D., is the Jack and Barbara McCoy Associate Professor in the Borch Department of Medicinal Chemistry and Molecular Pharmacology at Purdue University. His research advances precision medicine for genetic neurological disorders, with particular focus on autism, epilepsy, chronic pain, and disorders caused by mutations in voltage-gated sodium channels. Using mouse models, human stem cell-derived neurons, brain organoids, and genomic technologies, Dr. Yang investigates how disease-causing variants alter neuronal and neuroimmune function. His laboratory is also developing mutation-specific therapies, including gene replacement and CRISPR-based genome editing, with the goal of translating mechanistic discoveries into treatments for severe neurodevelopmental disorders.
Summary
Pathogenic variants in SCN2A are among the leading genetic causes of monogenic autism and epilepsy. SCN2A encodes the voltage-gated sodium channel Nav1.2, a critical regulator of neuronal excitability in the brain. In this lecture, Dr. Yang will discuss how SCN2A deficiency and disease-associated variants disrupt neuronal and circuit functions and alter behaviors, drawing on studies in transgenic rodent models and human brain organoids. Dr. Yang will also highlight the development of genetic medicines, including gene augmentation therapy and CRISPR prime editing, as potential therapeutic strategies for SCN2A-related brain disorder.
Learning Objectives:
- Explain how SCN2A mutations and Nav1.2 dysfunction contribute to autism, epilepsy, and related neurological disorders.
- Describe how SCN2A deficiency alters neuronal, circuit, and behavioral functions in rodent models and human brain organoids.
- Evaluate emerging genetic therapies, including gene augmentation and CRISPR prime editing, for treating SCN2A-related brain disorders.
This page was last updated on Wednesday, August 26, 2026