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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

Abdelnour, Elie, William Gallentine, Marie McDonald, Monisha Sachdev, Yong-Hui Jiang, and Mohamad A. Mikati. “Corrigendum to "Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature" [Seizure 55 (February) (2018) 1-3]..” Seizure 69 (July 2019). https://doi.org/10.1016/j.seizure.2019.04.014.

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Kim, Yuna, Sung Eun Wang, and Yong-Hui Jiang. “Epigenetic therapy of Prader-Willi syndrome..” Transl Res 208 (June 2019): 105–18. https://doi.org/10.1016/j.trsl.2019.02.012.

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Kumar, Akash, Diane B. Zastrow, Elijah J. Kravets, Daniah Beleford, Maura R. Z. Ruzhnikov, Megan E. Grove, Annika M. Dries, et al. “Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review..” Am J Med Genet A 179, no. 6 (June 2019): 966–77. https://doi.org/10.1002/ajmg.a.61134.

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Newman, John H., Aaron Shaver, Jonathan H. Sheehan, Simon Mallal, John H. Stone, Shiv Pillai, Lisa Bastarache, et al. “IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells..” Mol Genet Genomic Med 7, no. 6 (June 2019). https://doi.org/10.1002/mgg3.686.

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Chung, Changuk, Seungmin Ha, Hyojin Kang, Jiseok Lee, Seung Min Um, Haidun Yan, Ye-Eun Yoo, et al. “Early Correction of N-Methyl-D-Aspartate Receptor Function Improves Autistic-like Social Behaviors in Adult Shank2-/- Mice..” Biol Psychiatry 85, no. 7 (April 1, 2019): 534–43. https://doi.org/10.1016/j.biopsych.2018.09.025.

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Burrage, Lindsay C., John J. Reynolds, Nissan Vida Baratang, Jennifer B. Phillips, Jeremy Wegner, Ashley McFarquhar, Martin R. Higgs, et al. “Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes..” Am J Hum Genet 104, no. 3 (March 7, 2019): 422–38. https://doi.org/10.1016/j.ajhg.2019.01.007.

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Tu, Zhuchi, Hui Zhao, Bang Li, Sen Yan, Lu Wang, Yongjin Tang, Zhujun Li, et al. “CRISPR/Cas9-mediated disruption of SHANK3 in monkey leads to drug-treatable autism-like symptoms..” Hum Mol Genet 28, no. 4 (February 15, 2019): 561–71. https://doi.org/10.1093/hmg/ddy367.

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Tremblay, Martine W., and Yong-Hui Jiang. “DNA Methylation and Susceptibility to Autism Spectrum Disorder..” Annu Rev Med 70 (January 27, 2019): 151–66. https://doi.org/10.1146/annurev-med-120417-091431.

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Jiang, Yong-Hui, and Taosheng Huang. “[The history and current status of medical genetics and genomics system in the United States]..” Zhonghua Yi Xue Yi Chuan Xue Za Zhi 36, no. 1 (January 10, 2019): 1–6. https://doi.org/10.3760/cma.j.issn.1003-9406.2019.01.001.

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Machol, Keren, Justine Rousseau, Sophie Ehresmann, Thomas Garcia, Thi Tuyet Mai Nguyen, Rebecca C. Spillmann, Jennifer A. Sullivan, et al. “Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay..” Am J Hum Genet 104, no. 1 (January 3, 2019): 164–78. https://doi.org/10.1016/j.ajhg.2018.11.007.

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