Yong-hui Jiang, MD, PhD
- Pediatrics / Pediatrics-Medical Genetics
- Neurobiology
Address
DUMC 103857
Durham, NC 27710
Appointment Telephone
919-684-2036
Office Telephone
919-681-2789
Fax Telephone
919-668-0414
- MD, Shanghai Medical University (China), 1987
- Pediatrics, Texas Children's Hospital, Baylor College of Medicine (Texas), 2002-2005
- Clinical Genetics and Metabolism, Baylor College of Medicine (Texas), 2005-2007
- PhD, Molecular and Human Genetics, Baylor College of Medicine (Texas), 1999
Clinical Interests
Clinical and metabolic genetics, genetic syndromes, evaluation and treatment of metabolic disorders, genetic evaluation of neurodevelopmental and neurometabolic disorders, autism spectrum disorders, genomic-imprinting disorders including Angelman and Prader-Willi syndromes
Research Interests
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.
This faculty member has no reported relationships with industry.
Representative Publications
Jiang, YH; Wauki, K; Liu, Q; Bressler, J; Pan, Y; Kashork, CD; Shaffer, LG; Beaudet, AL. Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region. BMC Genomics. 2008;9:50.
(2008)
Abstract
Jiang, YH; Bressler, J; Beaudet, AL. Epigenetics and human disease. Annual Review of Genomics and Human Genetics. 2004;5:479-510.
(2004)
Abstract
Jiang, YH; 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. American Journal of Medical Genetics Part A. 2004;131:1-10.
(2004)
Abstract
Beaudet, AL; Jiang, YH. A rheostat model for a rapid and reversible form of imprinting-dependent evolution. American Journal of Human Genetics. 2002;70:1389-1397.
(2002)
Abstract
Jiang, YH; Armstrong, D; Albrecht, U; Atkins, CM; Noebels, JL; Eichele, G; Sweatt, JD; Beaudet, AL. Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron. 1998;21:799-811.
(1998)
Abstract
