Christian Vaisse, MD, PhD

Vera M. Long Endowed Chair in Diabetes Research
Department of Medicine
Diabetes Center
Research Overview: 

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

Melanocortin 4 receptor signals at the neuronal primary cilium to control food intake and body weight.

The Journal of clinical investigation

Wang Y, Bernard A, Comblain F, Yue X, Paillart C, Zhang S, Reiter JF, Vaisse C

OR04-01 MRAP2 Regulates Energy Homeostasis by Promoting Primary Cilia Localization of MC4R.

Journal of the Endocrine Society

Adelaide A Bernard, Irene Ojeda Naharros, Florence Bourgain Guglielmetti, Xinyu Yue, Christian Vaisse

Detailed 3-dimensional body shape features predict body composition, blood metabolites, and functional strength: the Shape Up! studies.

The American journal of clinical nutrition

Ng BK, Sommer MJ, Wong MC, Pagano I, Nie Y, Fan B, Kennedy S, Bourgeois B, Kelly N, Liu YE, Hwaung P, Garber AK, Chow D, Vaisse C, Curless B, Heymsfield SB, Shepherd JA

CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency.

Matharu N, Rattanasopha S, Tamura S, Maliskova L, Wang Y, Bernard A, Hardin A, Eckalbar WL, Vaisse C, Ahituv N

Genomic and epigenomic mapping of leptin-responsive neuronal populations involved in body weight regulation.

Nature Metabolism

Inoue F, Eckalbar WL, Wang Y, Murphy KK, Matharu N, Vaisse C, Ahituv N