GSRB1 Room 2079
595 LaSalle Street
Durham, NC 27710
Email: yong-hui DOT jiang AT duke DOT edu
Pediatrics, Division of Medical Genetics, School of Medicine
DIBS Faculty, DIBS Investigator
We are interested in understanding the genetic and epigenetic basis of neurodevelopmental disorders with emphasize on genomic imprinting disorders of Angelman syndrome and Prader-Willi syndrome as well as autism spectrum disorder. Angelman syndrome is caused by deficiency of brain-specific maternally expressed ubiquitin protein ligase 3A (UBE3A) genes. There was evidence supporting that HBII-85 SnoRNAs are responsible for the Prader-Willi syndrome. The genetic basis of autism spectrum disorder is largely unknown but mutations in several synaptic proteins including SHANK3 were reported in a small set of individuals with autism spectrum disorder. We are using cutting edge genome analysis techniques to identify genetic and epigenetic candidates for autism spectrum disorder. We have created mouse models using gene targeting and chromosomal engineering strategy for Angelman and Prader-Willi syndrome as well as autism. We are modeling these disorders in mice by application of biochemical, morphological, electrophysiological, and behavioral analyses. Finally, we are interested in exploring the potential of treating of Prader-Willi and Angelman syndrome by epigenetic modifications.
Clinical Genetics Fellowship, Baylor College of Medicine
Pediatric residency, Texas Children’s Hospital, Baylor College of Medicine
Ph.D., Baylor College of Medicine
M.D., Shanghai Medical University
Jiang, Y-H, Wauki,K, Liu Q, Pan, Y-Z, Bressler J, Kashork,CD, Li H, Shaffer L, Beaudet AL. Comprehensive genome analysis and identification of two new protein GOLGA8E and WHCD1L1 from the proximal breakpoint region of human chromosome 15q11-q13 Prader-Willi syndrome candidate region. BMC Genomics, 9:50 2008.
Jiang Y-H, Sahoo T, Michaelis RC, Bercovich D, Bressler J, Kashork CD, Liu Q, Shaffer LG, Schroer RJ, Stockton DW, Spielman RS, Stevenson RE, Beaudet AL. A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. Am J Med Genet. 131A(1):1-10.2004.
Jiang Y-H, Armstrong D, Albrecht U, Atkins CM, Noebels JL, Eichele G, Sweatt JD, Beaudet, AL: Mutation of the Angelman ubiquitin protein ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron 21:799-811, 1998.
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