About Y.S. (Yuwei) Shi, MD, PhD Student
Introduction
My research focuses on the role of epigenetic regulators in neurodevelopmental disorders (NDDs). With a background in medicine, I am interested in the clinical characterization, diagnosis, and treatment of NDDs. Through my PhD work, I employ pluripotent stem cell-based models to investigate the pathogenic mechanisms of novel genetic variants associated with these disorders, aiming to bridge the gap between molecular insights and clinical applications.
Field(s) of expertise
I use established and genetically engineered pluripotent stem cell lines to investigate disease mechanisms at molecular and cellular levels. My expertise includes electrophysiology (multielectrode array recordings), molecular biology, imaging analysis, and next-generation sequencing. I have applied pluripotent stem cell-based systems to generate neuronal cultures, including neural stem cells, induced Ngn2 neurons, astrocytes, and brain organoids.
Publications
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder. F Albuainain et al. Eur J Hum Genet. 2024.
https://pubmed.ncbi.nlm.nih.gov/38200082/
https://pubmed.ncbi.nlm.nih.gov/38200082/
Teaching activities
Supervise master students
Scholarships, grants, and awards
China Scholarship Council, 2021-2024
Early Career Investigators Fellowship, European Society of Human Genetics Conference (ESHG), Germany, 2024
