This 2026 seminar series, sponsored by Charlie Epstein’s family, brings eminent scientists with expertise in human genetics to present their research and meet with scientists at UCSF.
We invite you to join our seminar at UCSF Mission Bay campus with Tony Wynshaw-Boris from Case Western Reserve University.
Abstract:
Human Neurogenesis and Alterations in Human Genetic Disorders
Tony Wynshaw-Boris, MD, PhD
James H. Jewell MD '34 Professor of Genetics
Department of Genetics and Genome Sciences
Case Western Reserve University School of Medicine
My laboratory studies the pathophysiological mechanisms of human neurogenetic disorders, using animal models and more recently inducible pluripotent stem cell (iPSC) models. We have used both cerebral and cerebellar organoids to model human brain development and neurogenetic disorders, including lissencephaly, autism spectrum disorder (ASD) resulting from early brain overgrowth, and most recently developed a novel lineage tracing method to study neurogenesis. These studies have facilitated the investigation of mechanisms of early brain development, uncovering insights into the disruption of neurogenesis in several of these disorders. As an example, we found that two iPSC models with ASD and early brain overgrowth were found to have variants in PTEN or CTNNB1, coding for beta-catenin. Isogenic lines with the PTEN variant were used to uncover effects of the variant and the ASD genetic background on neurogenesis, defining common pathways important for cellular phenotypes, while the isogenic lines were used in lineage tracing studies to further delineate neurogenesis abnormalities.
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