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Yong-Hui Jiang, MD, PhD

Professor of Pediatrics
Professor of Neurobiology
Professor in the Department of Molecular Genetics and Microbiology
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

  • Clinical Genetics Fellowship, Texas Children's Hospital, Baylor College of Medicine, 2005 - 2007
  • Pediatrics Residency, Pediatrics, Texas Children's Hospital, Baylor College of Medicine, 2002 - 2005
  • Ph.D., Baylor College of Medicine, 1999
  • M.D., Shanghai Medical College Fudan University (China), 1987

Selected Grants and Awards

Publications

Tu, Z, Zhao, H, Li, B, Yan, S, Wang, L, Tang, Y, Li, Z, Bai, D, Li, C, Lin, Y, Li, Y, Liu, J, Xu, H, Guo, X, Jiang, Y-H, Zhang, YQ, and Li, X-J. "CRISPR/Cas9-mediated disruption of SHANK3 in monkey leads to drug-treatable autism-like symptoms." Human Molecular Genetics 28, no. 4 (February 2019): 561-571.

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Shashi, V, Schoch, K, Spillmann, R, Cope, H, Tan, QK-G, Walley, N, Pena, L, McConkie-Rosell, A, Jiang, Y-H, Stong, N, Need, AC, Goldstein, DB, and Undiagnosed Diseases Network, . "A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative." Genetics in Medicine : Official Journal of the American College of Medical Genetics 21, no. 1 (January 2019): 161-172.

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Tremblay, MW, and Jiang, Y-H. "DNA Methylation and Susceptibility to Autism Spectrum Disorder." Annual Review of Medicine 70 (January 2019): 151-166.

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Machol, K, Rousseau, J, Ehresmann, S, Garcia, T, Nguyen, TTM, Spillmann, RC, Sullivan, JA, Shashi, V, Jiang, Y-H, Stong, N, Fiala, E, Willing, M, Pfundt, R, Kleefstra, T, Cho, MT, McLaughlin, H, Rosello Piera, M, Orellana, C, Martínez, F, Caro-Llopis, A, Monfort, S, Roscioli, T, Nixon, CY, Buckley, MF, Turner, A, Jones, WD, van Hasselt, PM, Hofstede, FC, van Gassen, KLI, Brooks, AS, van Slegtenhorst, MA, Lachlan, K, Sebastian, J, Madan-Khetarpal, S, Sonal, D, Sakkubai, N, Thevenon, J, Faivre, L, Maurel, A, Petrovski, S, Krantz, ID, Tarpinian, JM, Rosenfeld, JA, Lee, BH, Undiagnosed Diseases Network, , and Campeau, PM. "Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay." American Journal of Human Genetics 104, no. 1 (January 2019): 164-178.

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Jiang, Y-H, and Huang, T. "[The history and current status of medical genetics and genomics system in the United States]." Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics 36, no. 1 (January 2019): 1-6.

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Towers, AJ, Tremblay, MW, Chung, L, Li, X-L, Bey, AL, Zhang, W, Cao, X, Wang, X, Wang, P, Duffney, LJ, Siecinski, SK, Xu, S, Kim, Y, Kong, X, Gregory, S, Xie, W, and Jiang, Y-H. "Epigenetic dysregulation of Oxtr in Tet1-deficient mice has implications for neuropsychiatric disorders." Jci Insight 3, no. 23 (December 6, 2018).

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Splinter, K, Adams, DR, Bacino, CA, Bellen, HJ, Bernstein, JA, Cheatle-Jarvela, AM, Eng, CM, Esteves, C, Gahl, WA, Hamid, R, Jacob, HJ, Kikani, B, Koeller, DM, Kohane, IS, Lee, BH, Loscalzo, J, Luo, X, McCray, AT, Metz, TO, Mulvihill, JJ, Nelson, SF, Palmer, CGS, Phillips, JA, Pick, L, Postlethwait, JH, Reuter, C, Shashi, V, Sweetser, DA, Tifft, CJ, Walley, NM, Wangler, MF, Westerfield, M, Wheeler, MT, Wise, AL, Worthey, EA, Yamamoto, S, Ashley, EA, and Undiagnosed Diseases Network, . "Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease." The New England Journal of Medicine 379, no. 22 (November 2018): 2131-2139.

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Hulbert, SW, Bey, AL, and Jiang, Y-H. "Environmental enrichment has minimal effects on behavior in the Shank3 complete knockout model of autism spectrum disorder." Brain and Behavior 8, no. 11 (November 2018): e01107-null.

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Xu, Q, Li, C-Y, Wang, Y, Li, H-P, Wu, B-B, Jiang, Y-H, and Xu, X. "Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature." Bmc Medical Genomics 11, no. 1 (October 23, 2018): 92-null.

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Wu, J, Yu, P, Jin, X, Xu, X, Li, J, Li, Z, Wang, M, Wang, T, Wu, X, Jiang, Y, Cai, W, Mei, J, Min, Q, Xu, Q, Zhou, B, Guo, H, Wang, P, Zhou, W, Hu, Z, Li, Y, Cai, T, Wang, Y, Xia, K, Jiang, Y-H, and Sun, ZS. "Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing." Journal of Genetics and Genomics = Yi Chuan Xue Bao 45, no. 10 (October 21, 2018): 527-538.

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