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Yuan-Tsong Chen, MD, PhD

Professor Emeritus of Pediatrics
Campus mail: Box 103856 Med Ctr, Durham, NC 27710
Phone: (919) 668-6156
Email address: chen0010@mc.duke.edu

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. This includes susceptibility genes for common multi-factorial diseases and adverse drug reactions. Genetic epidemiology, mouse ENU mutagenesis, bioinformatics and proteomics are some approaches that we use in identification of novel genes associated with the human disease. Genetic markers associated with drug-induced Stevens-Johnson syndrome and other adverse drug reactions have been identified. Prospective studies are in progress to assess the utilization of these markers to prevent the adverse drug reactions. A systematic, genome-wide, phenotype-driven mutagenesis program for gene function studies in the mouse have resulted in the identification of several mouse models of human genetic metabolic diseases. We will continue our research along these lines to identify more novel disease genes/ targets and to increase our understanding of the diseases.

2). Genetics and molecular mechanisms of Stevens-Johnson syndrome. With the identification of HLA-B allele strongly linked to the genetic susceptibility to the drug-induced Stevens-Johnson syndrome, we are investigating how the specific HLA allele mediated the cell toxicity in causing disseminated keratinocyte death.

3). Functional characterization of a novel glucose transporter and its role in diabetes mellitus. We cloned a novel glucose transporter (Glu 10), which is highly expressed in pancreas and liver and is located on a region of a chromosome where a diabetes mellitus type II locus has been mapped. We are currently investigating its role in diabetes by studying mouse models carrying the GLU10 mutations and by direct genetic association study of human patients affected with diabetes.

4). Enzyme and gene therapy and targeting mechanisms of Pompe disease.
Pompe disease is a fatal genetic muscle disorder. As enzyme replacement therapy for Pompe disease moves into clinical reality the fundamental question of how the enzyme targets the heart and skeletal muscle and why some patients respond better than others remain unanswered. We have generated tissue-specific MPR300 knockout mouse model and other animal models to help answer these questions.

Education and Training

  • Ph.D., Columbia University, 1978
  • M.D., National Taiwan University, 1973

Publications

Chan, R, Wei, C-Y, Chen, Y-T, and Benet, LZ. "Use of the Biopharmaceutics Drug Disposition Classification System (BDDCS) to Help Predict the Occurrence of Idiosyncratic Cutaneous Adverse Drug Reactions Associated with Antiepileptic Drug Usage." The AAPS journal 18, no. 3 (May 2016): 757-766.

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Ko, T-M, Wong, C-S, Wu, J-Y, and Chen, Y-T. "Pharmacogenomics for personalized pain medicine." Acta anaesthesiologica Taiwanica : official journal of the Taiwan Society of Anesthesiologists 54, no. 1 (March 11, 2016): 24-30. (Review)

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Song, I-W, Sung, C-C, Chen, C-H, Cheng, C-J, Yang, S-S, Chou, Y-C, Yang, J-H, Chen, Y-T, Wu, J-Y, and Lin, S-H. "Novel susceptibility gene for nonfamilial hypokalemic periodic paralysis." Neurology 86, no. 13 (March 2, 2016): 1190-1198.

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Pattaro, C, Teumer, A, Gorski, M, Chu, AY, Li, M, Mijatovic, V, Garnaas, M, Tin, A, Sorice, R, Li, Y, Taliun, D, Olden, M, Foster, M, Yang, Q, Chen, M-H, Pers, TH, Johnson, AD, Ko, Y-A, Fuchsberger, C, Tayo, B, Nalls, M, Feitosa, MF, Isaacs, A, Dehghan, A, d'Adamo, P, Adeyemo, A, Dieffenbach, AK, Zonderman, AB, Nolte, IM, van der Most, PJ, Wright, AF, Shuldiner, AR, Morrison, AC, Hofman, A, Smith, AV, Dreisbach, AW, Franke, A, Uitterlinden, AG, Metspalu, A, Tonjes, A, Lupo, A, Robino, A, Johansson, Å, Demirkan, A, Kollerits, B, Freedman, BI, Ponte, B, Oostra, BA, Paulweber, B, Krämer, BK, Mitchell, BD, Buckley, BM, Peralta, CA, Hayward, C, Helmer, C, Rotimi, CN, Shaffer, CM, Müller, C, Sala, C, van Duijn, CM, Saint-Pierre, A, Ackermann, D, Shriner, D, Ruggiero, D, Toniolo, D, Lu, Y, Cusi, D, Czamara, D, Ellinghaus, D, Siscovick, DS, Ruderfer, D, Gieger, C, Grallert, H, Rochtchina, E, Atkinson, EJ, Holliday, EG, Boerwinkle, E, Salvi, E, Bottinger, EP, Murgia, F, Rivadeneira, F, Ernst, F, Kronenberg, F, Hu, FB, Navis, GJ, Curhan, GC, Ehret, GB, Homuth, G, Coassin, S, Thun, G-A, Pistis, G, Gambaro, G, Malerba, G, Montgomery, GW, Eiriksdottir, G, Jacobs, G, Li, G, Wichmann, H-E, Campbell, H, Schmidt, H, Wallaschofski, H, Völzke, H, Brenner, H, Kroemer, HK, Kramer, H, Lin, H, Leach, IM, Ford, I, Guessous, I, Rudan, I, Prokopenko, I, Borecki, I, Heid, IM, Kolcic, I, Persico, I, Jukema, JW, Wilson, JF, Felix, JF, Divers, J, Lambert, J-C, Stafford, JM, Gaspoz, J-M, Smith, JA, Faul, JD, Wang, JJ, Ding, J, Hirschhorn, JN, Attia, J, Whitfield, JB, Chalmers, J, Viikari, J, Coresh, J, Denny, JC, Karjalainen, J, Fernandes, JK, Endlich, K, Butterbach, K, Keene, KL, Lohman, K, Portas, L, Launer, LJ, Lyytikäinen, L-P, Yengo, L, Franke, L, Ferrucci, L, Rose, LM, Kedenko, L, Rao, M, Struchalin, M, Kleber, ME, Cavalieri, M, Haun, M, Cornelis, MC, Ciullo, M, Pirastu, M, de Andrade, M, McEvoy, MA, Woodward, M, Adam, M, Cocca, M, Nauck, M, Imboden, M, Waldenberger, M, Pruijm, M, Metzger, M, Stumvoll, M, Evans, MK, Sale, MM, Kähönen, M, Boban, M, Bochud, M, Rheinberger, M, Verweij, N, Bouatia-Naji, N, Martin, NG, Hastie, N, Probst-Hensch, N, Soranzo, N, Devuyst, O, Raitakari, O, Gottesman, O, Franco, OH, Polasek, O, Gasparini, P, Munroe, PB, Ridker, PM, Mitchell, P, Muntner, P, Meisinger, C, Smit, JH, ICBP Consortium, , AGEN Consortium, , CARDIOGRAM, , CHARGe-Heart Failure Group, , ECHOGen Consortium, , Kovacs, P, Wild, PS, Froguel, P, Rettig, R, Mägi, R, Biffar, R, Schmidt, R, Middelberg, RPS, Carroll, RJ, Penninx, BW, Scott, RJ, Katz, R, Sedaghat, S, Wild, SH, Kardia, SLR, Ulivi, S, Hwang, S-J, Enroth, S, Kloiber, S, Trompet, S, Stengel, B, Hancock, SJ, Turner, ST, Rosas, SE, Stracke, S, Harris, TB, Zeller, T, Zemunik, T, Lehtimäki, T, Illig, T, Aspelund, T, Nikopensius, T, Esko, T, Tanaka, T, Gyllensten, U, Völker, U, Emilsson, V, Vitart, V, Aalto, V, Gudnason, V, Chouraki, V, Chen, W-M, Igl, W, März, W, Koenig, W, Lieb, W, Loos, RJF, Liu, Y, Snieder, H, Pramstaller, PP, Parsa, A, O'Connell, JR, Susztak, K, Hamet, P, Tremblay, J, de Boer, IH, Böger, CA, Goessling, W, Chasman, DI, Köttgen, A, Kao, WHL, and Fox, CS. "Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function." Nature Communications 7 (January 21, 2016): 10023-null.

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Wen, W, Kato, N, Hwang, J-Y, Guo, X, Tabara, Y, Li, H, Dorajoo, R, Yang, X, Tsai, F-J, Li, S, Wu, Y, Wu, T, Kim, S, Guo, X, Liang, J, Shungin, D, Adair, LS, Akiyama, K, Allison, M, Cai, Q, Chang, L-C, Chen, C-H, Chen, Y-T, Cho, YS, Choi, BY, Gao, Y, Go, MJ, Gu, D, Han, B-G, He, M, Hixson, JE, Hu, Y, Huang, T, Isono, M, Jung, KJ, Kang, D, Kim, YJ, Kita, Y, Lee, J, Lee, NR, Lee, J, Wang, Y, Liu, J-J, Long, J, Moon, S, Nakamura, Y, Nakatochi, M, Ohnaka, K, Rao, D, Shi, J, Sull, JW, Tan, A, Ueshima, H, Wu, C, Xiang, Y-B, Yamamoto, K, Yao, J, Ye, X, Yokota, M, Zhang, X, Zheng, Y, Qi, L, Rotter, JI, Jee, SH, Lin, D, Mohlke, KL, He, J, Mo, Z, Wu, J-Y, Tai, ES, Lin, X, Miki, T, Kim, B-J, Takeuchi, F, Zheng, W, and Shu, X-O. "Genome-wide association studies in East Asians identify new loci for waist-hip ratio and waist circumference." Scientific Reports 6 (January 20, 2016): 17958-null.

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Liu, K-M, Chen, Y-J, Shen, L-F, Haddad, ANS, Song, I-W, Chen, L-Y, Chen, Y-J, Wu, J-Y, Yen, JJY, and Chen, Y-T. "Cyclic Alopecia and Abnormal Epidermal Cornification in Zdhhc13-Deficient Mice Reveal the Importance of Palmitoylation in Hair and Skin Differentiation." The Journal of Investigative Dermatology 135, no. 11 (November 2015): 2603-2610.

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Sudhir, P-R, Lin, S-T, Chia-Wen, C, Yang, S-H, Li, AF-Y, Lai, R-H, Wang, M-J, Chen, Y-T, Chen, C-F, Jou, Y-S, and Chen, J-Y. "Loss of PTPRM associates with the pathogenic development of colorectal adenoma-carcinoma sequence." Scientific reports 5 (April 24, 2015): 9633-.

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Lin, C-H, Chen, J-K, Ko, T-M, Wei, C-Y, Wu, J-Y, Chung, W-H, Chen, S-Y, Liao, Y-D, Hung, S-I, and Chen, Y-T. "Immunologic basis for allopurinol-induced severe cutaneous adverse reactions: HLA-B*58:01-restricted activation of drug-specific T cells and molecular interaction." The Journal of allergy and clinical immunology 135, no. 4 (April 2015): 1063-5.e5. (Letter)

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Chou, CH, Lee, MTM, Song, IW, Lu, LS, Shen, HC, Lee, CH, Wu, JY, Chen, YT, Kraus, VB, and Wu, CC. "Insights into osteoarthritis progression revealed by analyses of both knee tibiofemoral compartments." Osteoarthritis and Cartilage 23, no. 4 (April 1, 2015): 571-580.

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Chou, C-H, Lee, MTM, Song, I-W, Lu, L-S, Shen, H-C, Lee, C-H, Wu, J-Y, Chen, Y-T, Kraus, VB, and Wu, C-C. "Insights into osteoarthritis progression revealed by analyses of both knee tibiofemoral compartments." Osteoarthritis and cartilage 23, no. 4 (April 2015): 571-580.

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