Chinese Doctors Directory Chinese Medical School Graduates Gathering in North America

Additional Information

Ph.D.: Molecular and Human Genetics, Baylor College of Medicine 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.