Christian Vaisse, MD, PhD

Vera M. Long Endowed Chair in Diabetes Research
Professor
Department of Medicine
Diabetes Center
vaisse@diabetes.ucsf.edu

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.

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Tissue / Organ Biology & Endocrinology
Research Summary: 
Genetics of Metabolic Diseases
Publications: 

Acute Lesioning and Rapid Repair of Hypothalamic Neurons outside the Blood-Brain Barrier.

Cell reports

Yulyaningsih E, Rudenko IA, Valdearcos M, Dahlén E, Vagena E, Chan A, Alvarez-Buylla A, Vaisse C, Koliwad SK, Xu AW

The Association of Serum Leptin with Mortality in Older Adults.

PloS one

Mishra S, Harris TB, Hsueh WC, Hue T, Leak TS, Li R, Mehta M, Vaisse C, Sahyoun NR

Genetic association study of adiposity and melanocortin-4 receptor (MC4R) common variants: replication and functional characterization of non-coding regions.

PloS one

Evans DS, Calton MA, Kim MJ, Kwok PY, Miljkovic I, Harris T, Koster A, Liu Y, Tranah GJ, Ahituv N, Hsueh WC, Vaisse C

Hyperphagia: current concepts and future directions proceedings of the 2nd international conference on hyperphagia.

Obesity (Silver Spring, Md.)

Heymsfield SB, Avena NM, Baier L, Brantley P, Bray GA, Burnett LC, Butler MG, Driscoll DJ, Egli D, Elmquist J, Forster JL, Goldstone AP, Gourash LM, Greenway FL, Han JC, Kane JG, Leibel RL, Loos RJ, Scheimann AO, Roth CL, Seeley RJ, Sheffield V, Tauber M, Vaisse C, Wang L, Waterland RA, Wevrick R, Yanovski JA, Zinn AR

Functional characterization of SIM1-associated enhancers.

Human molecular genetics

Kim MJ, Oksenberg N, Hoffmann TJ, Vaisse C, Ahituv N