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Neuroscience Graduate Program at UCSF

Faculty - Christian Vaisse, M.D./Ph.D.

Linking Cell Signaling and Membrane Traffic

Research Description

The overall goal of this laboratory is to identify genetic defects implicated in the onset and progression of multi-factorial metabolic diseases such as obesity and diabetes. Our strategy combines human genetic approaches with molecular biology and animal studies.

We are currently concentrating our research on the molecular mechanisms implicated in the hypothalamic effects of the adipocyte secreted, weight regulating hormone, leptin. After describing the first leptin receptor mutation in severely obese humans, we recently found that genetic alterations in the Melanocortin 4 receptor (MC4R), a mediator of the hypothalamic effects of leptin, are responsible for a more common form of human obesity. Using large scale automated screening procedures we now further investigate the frequency of mutations in the MC4R gene in large cohorts of obese patients.

In parallel we also search for obesity causing mutations in additional candidate genes downstream the leptin pathway. Finally, both through in vitro and in vivo studies we are aiming to understand how these mutations cause obesity and what the implications are for the treatment of this condition.

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Current Projects

Please refer to the research summary above.

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Lab Members

Ivy Aslan, Pediatric Endocrinology Fellow
Jimmy Chen, Administrative Assistant
Baran Ersoy, PSPG Graduate Student
Helene Favre, Postdoctoral Fellow
Melissa Meucci, PSPG Graduate Student
Jacqueline Siljee, Postdoctoral Fellow
Inma Valle, Postdoctoral Fellow
Jennifer Wade, Postdoctoral Fellow
Sumei Zhang, Staff Research Associate

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Selected Publications

Srinivasan S., Lubrano-Berthelier C., Govaerts C., Picard F., Santiago P, Conklin B., & Vaisse C. (2004) Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humans. Journal of Clinical Investigation 114:1158-1164

Mauvais-Jarvis F, Smith S.B., Le May C., Leal S.M., Gautier J.-F. Rajan A., Virally M., Kevorkian J.-P., Zhang S., Riveline J.-P, Charpentier G., Vexiau P., German M.S. & Vaisse C. (2004) PAX4 Gene variations Predispose to Ketosis prone Diabetes. Human Molecular Genetics (Vol 13, Issue24)

Picard F., Robin S., Lavielle M., Vaisse C.& Daudin J-J. (2005) A statistical approach for CGH microarray data analysis. BMC Bioinformatics 11;6(1):27

Elefetriou F., Ahn J.D., Takeda S., Starbuck M, Xiangli Y, Liu X, Kondo H., Richards W.G., bannon T.W., Noda M., Clement K., Vaisse C., & Karsenty G. (2005) Leptin regulation of bone resorption by the sympathetic nervous system and CART. Nature 434:514-20

Swarbrick M.M.,Waldenmaier B., Pennacchio L.A., Cavazos M.M., Geller F., Lind D.L., Merriman R., Ustaszewska A., Rief W., Mauvais-Jarvis F., Pullinger C.R., Kane J.P., Dent R., Kwok P.Y., McPherson R, Hinney A., Hebebrand J. & Vaisse C. (2005) Lack of Support for the Association Between GAD2 Polymorphisms and the Predisposition to Severe Human Obesity. PLoS Biology 3:e315

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Christian Vaisse, M.D./Ph.D.





Office Address

UCSF Box 0540
513 Parnassus Avenue, room HSW-1113
San Francisco, CA 94143

Other Websites

Biomedical Sciences Graduate Program

Diabetes Center

Institute for Human Genetics

Lab Website

Pharmaceutical Sciences & Pharmacogenomics