Yong-Hui Jiang

Associate Professor of Pediatrics
Associate Professor of Neurobiology
Campus mail: 4004 GSRB I, 905 S. Lasalle St, Duke Medical Ctr, Durham, NC 27710
Phone: (919) 681-2789
Email address: yong-hui.jiang@duke.edu

The research in Jiang’s lab is directed at understanding genetic and epigenetic basis of human diseases with a focus on genomic imprinting disorders of Angelman and Prader-Willi syndrome as well as autism spectrum disorders. Angelman syndrome and Prader-Willi syndrome are two best examples of genomic imprinting disorders caused by the defect of an imprinting domain in the human chromosome 15q11-q13 region. Autism spectrum disorders are neurodevelopmental disorder that affects 1 out 160 children. The core symptoms of autism spectrum disorders are impairment in communication and language development, social interaction, and stereotyped behaviors. Although the strong genetic etiology is implicated in autism spectrum disorders, the molecular basis for majority of individuals with autism spectrum disorders remains unknown. From lessons learned from genomic imprinting disorder of Angelman syndrome, we hypothesize that both genetic and epigenetic defects in genes encoding synaptic proteins contribute to the susceptibility of autism spectrum disorders.

We are using genetic and epigenetic tools to identify the molecular basis of autism spectrum disorders. For genetic analysis, we are aiming to identify DNA mutation and chromosomal microdeletion of synaptic protein coding genes in autism spectrum disorders. For epigenetic analysis, we are particularly interested in the role of DNA methylation in the susceptibility of autism spectrum disorders and brain function. Using mouse embryonic stem cell gene targeting and other mouse genetic manipulations, we have generated a panel of mutant mice to study human Angelman and Prader-Willi syndrome as well as autism spectrum disorders. Using techniques combining biochemical, morphological, electrophysiological, and behavioral analysis, we are dissecting the function of human disease causing genes in vivo, understanding the function of DNA methylation in brain function, and delineating the synaptic basis of neurodevelopmental disorders in mouse models.

Education and Training

  • Shanghai Medical College Fudan University (China), M.D. 1987
  • Baylor College of Medicine, Ph.D. 1999
  • Baylor College of Medicine, Pediatrics Residency, Pediatrics, Texas Children's Hospital
  • Baylor College of Medicine, Clinical Genetics Fellowship, Texas Children's Hospital

Associated Faculty Labs

Department Affiliation

  • Department of Pediatrics

Publications

Pena, LDM, Jiang, Y-H, Schoch, K, Spillmann, RC, Walley, N, Stong, N, Rapisardo Horn, S, Sullivan, JA, McConkie-Rosell, A, Kansagra, S, Smith, EC, El-Dairi, M, Bellet, J, Keels, MA, Jasien, J, Kranz, PG, Noel, R, Nagaraj, SK, Lark, RK, Wechsler, DSG, Del Gaudio, D, Leung, ML, Hendon, LG, Parker, CC, Jones, KL, Undiagnosed Diseases Network Members, , Goldstein, DB, and Shashi, V. "Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases." Genetics in medicine : official journal of the American College of Medical Genetics (September 14, 2017).

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