Clinical instructor, Department of Human Genetics, School of Medicine, University of California Los Angeles
I am a clinical geneticist with a special interest in the inherited metabolic disorders. My long-term research goal is to elucidate the relationship between cellular metabolism and epigenetics in neurodevelopmental disorders. My previous research focused on the role of histone methylation in human embryogenesis. My study demonstrated the methylation of histone H3 lysine-4 (H3K4) was essential for the gametogenesis and early embryo development. More recently, my research effort led to the discovery of a novel genetic disorder with defective cellular epigenetic machinery. The mutations in the RBBP5 gene, a core member of histone H3K4 methylation protein complex, resulted in neurodevelopmental features including severe developmental delay, intellectual disability, microcephaly, and seizure. We revealed that the loss of RBBP5-mediated H3K4 methylation prohibited the differentiation of neural stem cells in the brain of Drosophila.