Dr. Yuan-Tsong Chen, Professor

Genomics Research Center, Academia Sinica
Phone: 886-2-


1978, Ph.D.@Human Genetics
@@@@@@ Columbia University, USA


@Our overall research interests are in translational research. We aim at translating the promise of genomic medicine into clinical reality.

Specific projects at present time include:

1. Identification of novel genes/targets associated with human diseases. Genetic epidemiology, mouse ENU mutagenesis, bioinformatics, bioinformatics and proteomics are some approaches that we use in identification of novel genes associated with the human disease. Genes for several monogenic diseases have been mapped and/or identified or identified. Genetic markers associated with drug-induced Stevens-Johnson syndrome have been identified. Using ENU mutagenesis we have identified a mouse model resembling human maple syrup urine disease.

2. Functional characterization of a novel glucose transporter and its role in diabetes mellitus.

3. Enzyme and gene therapy and targeting mechanisms of Pompe disease.


1. Amalfitano, A, McVie-Wylie, A.J., Hu, H., Dawson, T.L., Raben, N., Plotz, P. and Chen, Y.T.Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid a-glucosidase. Proc. Natl. Acad. Sci. 96: 8861-8866, 1999.

2. McVie-Wylie, A.J., Lamson, D.R. and Chen, Y.T. Molecular cloning of a novel member of the GLUT family of transporters, SLC2A10 (GLUT10), localized on chromosome 20q13.1; a candidate gene for NIDDM susceptibility. Genomics 72: 113-117, 2001.

3. Amalfitano, A., Bengur, A.R., Morse, R.P., Majure, J.M., Case, L.E., Veerling, D.L., Mackey, J.F., Kishnani, P.S., Smith, W., McVie-Wylie, A.J., Sullivan, J.A., Hoganson, G.E., Phillips, J.A., Schaefer, G.B., Charrow, J., Ware, R.E., Bossen, E.H. and Chen, Y.T. Recombinant human acid-a-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genetics in Medicine. 3: 132-138, 2001.

4. Wu JY, Kao HJ, Li SC, Stevens RD, Hillman S, Millington DS, and Chen YT. ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease. J Clin Invest, 113:434-440, 2004.

5. Chung WH, Hung SI, Hong HS, Hsih MS, Yang LC, Ho HC, Wu JW, Chen YT. A marker for Stevens-Johnson syndrome. Nature, 428:486 2004.

6. Hwu WL, Yang CF, Fann Cathy S J, Chen CL, Tsai TF, Chien YH, Chiang SC, Chen CH, Hung SI , Wu JY, and Chen YT. Mapping of psoriasis to 17q terminus. J Medical Genetics, in press, 2004.

7. Chen, Y.T. Glycogen storage diseases. In: Harrison Principles of Internal Medicine, 14th Edition, pp 2176-2182, 1998, 15th Edition, pp 2281-2289, 2001, 16th edition, in press 2004.

8. Chain a-Ketoacid Dehydrogenase. Protein Sci. (2004) (in press)

Members of Laboratory