A full list of publications can be found at: http://www.ncbi.nlm.nih.gov/sites/myncbi/1xKWzni_jm8/bibliography/40740027/public/?sort=date&direction=descending

Our research focuses on understanding the function of genes that cause complex metabolic phenotypes, such as diabetes and obesity. To investigate this problem, we are pursuing two lines of questioning:

1. Functional assessment of genes associated with common, complex disorders: Using the zebrafish system and cell models, we are investigating how common variants in disease-associated genes produce metabolic phenotypes. We use targeted disruption of gene expression in zebrafish embryos or cultured cell lines as well as addition of environmental factors, such as high fat diet, to understand what aspects of disease are regulated by susceptibility genes. Our goal is to understand how genetic variants contribute to disease risk and how that contribution is exacerbated in the presence of environmental triggers.
2. Investigation of rare disorders characterized by obesity and other related features: Disorders that are caused by defects in primary cilia (ciliopathies) display obesity and other metabolic syndrome defects. To understand this, we are investigating how ciliopathy genes contribute to developmental defects in organ systems – such as pancreas and hypothalamus - that might underlie obesity and diabetes. By focusing on such defects in the context of ciliopathies, we hope to understand the pathways that contribute to these phenotypes and shed light onto other more common diseases with similar features.