Morris Schambelan, M.D.
Professor of Medicine

Contact Information:
morrie@sfghgcrc.ucsf.edu
Tel: (415) 206-3351
Fax: (415) 826-3381
General Clinical Research Center
Div. of Endocrinology, San Francisco General Hospital, Box 1353
NH, 5th Floor 5B6
San Francisco, CA 94110

Links:
General Clinical Research Center

Publications

 

Pathogenesis of endocrinologic and metabolic pertubations in HIV infection and treatment

Dr. Schambelan is Professor of Medicine at the University of California San Francisco and Chief of the Division of Endocrinology and Metabolism at San Francisco General Hospital Medical Center

In metabolic studies carried out in the setting of the GCRC, Dr. Schambelan is investigating the pathogenesis of endocrinologic and metabolic perturbations in patients with HIV infection with a particular emphasis on the hyperlipidemia, insulin resistance and body composition abnormalities seen recently in the era of highly active antiretroviral therapy. Studies are also carried out in patients with related catabolic states (e.g. end-state renal failure, aging). Treatment options are evaluated both in intensive inpatient studies as well as in placebo-controlled outpatient clinical trials. Therapies under current evaluation include hormonal anabolic agents (recombinant human growth hormone, anabolic steroids), inhibitors of cytokine production (thalidomide), insulin-sensitizing agents and, in patients with end-stage renal disease, the effects of amelioration of acidosis and/or resistance exercise training. Outcomes are assessed using metabolic balance techniques (nitrogen and electrolyte balance); measures of body composition (dual energy x-ray absorptiometry, CT scanning, biological impedance analysis, isotope dilution); energy and substrate metabolism (indirect calorimeter, doubly-labeled water); carbohydrate, lipid and protein metabolism (stable isotopes, muscle biopsy); and muscle function (exercise physiology, magnetic resonance spectroscopy).

Dr. Schambelan also has a long-standing interest in GCRC-based studies of inherited disorders of electrolyte transport and rare forms of secondary hypertension with a current focus on defining the molecular basis for such disorders.

Selected Publications:
Risch, N., Devlin, B. (1995) Linkage disequilibrium measures for fine-scale mapping. Genomics 29:311-322.

Risch, N. and Zhang, H. (1995) Extreme discordant sib pairs for mapping quantitative trait loci in humans. Science 268:1584-1589.

Ebers, G. C., Sadovnick, A. D. & Risch, N. (1995) A genetic basis for familial aggregation in multiple sclerosis. Nature 377:150-151.

Schwab, S. G., Albus, M., Hallmayer, J., Honig, S., Boormann, M., Lichtermann, D., Ebstein, R. P., Avnon, M., Ley-Reuss, E., Ackenheil, M., Minges, J., Lerer, B., Risch, N., Maier, W., and Wildenauer, D. B. (1995) Evaluation of a susceptibility gene for schizophrenia on chromosome 6p by affected sib pair linkage analysis. Nat. Genet. 11:325-327.

Sadovnick, A. D., Ebers, G. C., Dyment, D., and Risch, N. (1996) Evidence for the genetic basis in multiple sclerosis. Lancet 347:1728-1730.

Hanis, C. L., Boerwinkle, E., Chakraborty, R., Ellsworth, D. L., Concannon, P., Stirling, B., Morrison, V. A., Waplehorst, B., Spielman, R. S., Goglin-Ewins, K. J., Shepard, J. M., Williams, S. R., Risch, N., Hinds, D., Iwasaki, N., Ogata, M., Omori, Y., Petzold, C., Rietzsch, H., Schroeder, H.-E., Schulze, J., Cox, N. J., Menzel, S., Borirau, V. V., Yamagata, K., Yang, Y. and Bell, G. I. (1996) A genome-wide search for human non-insulin-dependent (type 2) diabetes mellitus susceptibility genes: evidence for a major susceptibility locus on chromosome 2. Nat. Genet. 13:1161-166.

Feder, J. N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., Dormishian, F., Domingo, R., Ellis, M. C., Fullan, A., Hinton, L. M., Jones, N. L., Kimmel, B. E., Kromal, G. S., Lauer, P., Lee, V. K., Loeb, D. B., Mapa, F. A., McClelland, E., Meyer, N. C., Mintier, G. A., Moeller, N., Moore, T., Morikang, E., Prass, C. E., Quintana, L., Starnes, S. M., Schatzman, R. C., Brunke, K. J., Drayna, D. T., Risch, N. J., Bacon, B. R., and Wolff, R. K. (1996) A novel MHC class 1-like gene is mutated in patients with hereditary haemochromatosis. Nat. Genet. 13:399-408.

Ebers. G. C., Kukay, D., Bulman, D. E., Sadovnick, A. D., Rice, G., Anderson, C., Armstrong, H., Cousin, K., Bell, R. B., Hader, W., Paty, D. W., Hashimoto, S., Oger, J., Duquette, P., Warren, S., Gray, T., O'Connor, P., Nath, A., Auty, A., Metz, L., Francis, G., Paulseth, J. E., Murray, T. J., Pryse-Phillips, W., Nelson, R., Freedman, M., Brunet, D., Bouchard, J.-P., Hinds, D., and Risch, N. (1996) A full genome search in multiple sclerosis. Nat. Genet. 13:472-476.

Risch, N. and Merikangas, K. (1996) The future of genetic studies of complex human diseases. Science 273:1516-1517.

Mansfield, T. A., Simon, D. B., Farfel, Z., Bia, M., Tucci, J. R., Lebel, M., Gutkin, M., Vialettes, B., Chris tofilis, M. A., Kauppiunen-Makelin, R., Mayan, H., Risch, N., and Lifton, R. P. (1997) Multilocus linkage of familial hyperkalemia and hypertension, pseudohypoadlosteronism type II, to 1q31-42 and 17p[11-q21. Nat. Genet. 16:202-205.

Ozelius, L. J., Hewett, J. W., Page, C. E., Bressman, S. B., Kramer, P. L., Shalish, C., deLeon, D., Brin, M. F., Raymond, D., Corey, D. P., Fahn, S., Risch, N. J., Buckler, A. J., Gusella, J. F., and Breakefield, X. O. (1997) The early onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat. Genet. 17:40-48.

Farrer, L. A., Cupples, L. A., Haines, J. L., Hyman, B., Kukull, W. A., Mayeux, R., Myers, R. H, Pericak-Vance, M. A., Risch, N., vanDuijn, C. M. (1997) Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. ApoE and Alzheimer Disease Meta Analysis Consortium. JAMA 278:1349-1356.

Risch, N. (1997) Haemochromatosis, Hfe and genetic complexity. (1997) Nat. Genet. 17:375-376.

Concannon, P., Gglin-Ewins, K. J., Hinds, D., Wapelhorst, B., Morrison, V. A., Stirling, B., Mitra, M., Farmer, J., Williams, S. R., Cox, N. J., Bell, G. I., Risch, N., and Speilman, R. S. (1998) A second-generation screen of the human genome for susceptibility to insulin-dependent diabetes mellitus. Nat. Genet. 19:292-296.

Risch, N. J. (2000) Searching for genetic determinants in the new millennium. Nature 405:847-856.

Risch., N. (2001) The genetic epidemiology of cancer: interpreting family and twin studies and their implications for molecular genetic approaches. Cancer Epidemiol. Biomarkers Prev. 10:733-741.

Burchard EG, Ziv E, Coyle N, Gomez SL, Tang H, Karter AJ, Mountain JL, Perez-Stable EJ, Sheppard D, Risch N. The importance of race and ethnic background in biomedical research and clinical practice. N Engl J Med. 2003 Mar 20;348(12):1170-5.

McIntire JJ, Umetsu SE, Macaubas C, Hoyte EG, Cinnioglu C, Cavalli-Sforza LL, Barsh GS, Hallmayer JF, Underhill PA, Risch NJ, Freeman GJ, DeKruyff RH, Umetsu DT. Immunology: hepatitis A virus link to atopic disease. Nature. 2003 Oct 9;425(6958):576.

Tang H, Quertermous T, Rodriguez B, Kardia SL, Zhu X, Brown A, Pankow JS, Province MA, Hunt SC, Boerwinkle E, Schork NJ, Risch NJ. Genetic structure, self-identified race/ethnicity, and confounding in case-control association studies. Am J Hum Genet. 2005 Feb;76(2):268-75. Epub 2004 Dec 29.

Zhu, X., Luke, A., Cooper, R.S., Quertermous, T., Hanis, C., Mosley, T., Gu, C.C., Tang, H., Rao, D.C., Risch, N., Weder, A. Admixture mapping for hypertension loci with genome-scan markers. Nat Genet 37(2):177-81, 2005