Bing-Zhi Yang, M.D.
Director of Molecular Diagnostics
Associate Professor of Biomedical Studies, Baylor University
Contact Information:
Phone: 214-820-4851
Education:
M.D. Henan Medical University
Research Interests:
• Molecular aspect of Fatty Acid Oxidation Disorders
• Mutation screening for Fatty Acid Oxidation Disorders
Current Research:
Fatty acid oxidation plays a major role in energy production. Inherited defects in this process include Medium-chain acyl-CoA dehydrogenase deficienty (MCAD), Carnitine Palmitoyltransferase (CPTII) and Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD). The Molecular Diagnostic Laboratory focuses on gene cloning and analyzing the molecular defects of these genes and the mechanisms by which mutations lead to different clinical presentations. Other disease genes under study include Carnitine Acylcarnitine Translocase (CACT), Very Long-Chain Acyl-CoA Dehydrogenase deficiency (VLCAD) and other genes involved inborn errors of metabolism.
One area of interest is the development and application of new molecular techniques to clinical diagnosis. Through collaboration with other investigators in the Institute of Metabolic Disease and elsewhere in Baylor University Medical Center at Dallas, the most recent discoveries about mutation/genetic disorders and novel methodology from the research laboratory are implemented into the practice of medicine.
Representative Publications:
Yang, B., Ding, J., Dewese, T., Roe, D., Goucheng, H., Wilkinson, J., Day, D., Demaugre, F., Rabier, D., Brivet, M., Roe, C.R. Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPTII) deficiency. Molecular Genetics and Metabolism 64: 229-236, 1998.
Ding, J. Yang, B., Nada, M.A., and Roe, C.R. Improved Detection of the G1528 mutation in LCHAD deficiency. Biochemical and Molecular Medicine 58: 46-51, 1996. |
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