The research that I will conduct as a University Scholar pertains to Bardet-Biedl syndrome (BBS). BBS is a ciliopathic human genetic disorder which afflicts 1 out of 100,000 Americans. Defects in the functioning of cilia result in disrupted signaling pathways that can lead to the inhibition of metabolic processes. Human subjects harboring such defects have a cluster of conditions including blindness, polydactyly, kidney abnormalities, cognitive deficits, diabetes, cardiovascular disease, and obesity. I will investigate the role of the BBS5 protein in the development of homeostasis imbalance. In order to accomplish this, I will compare homozygous and wild type mice in regards to their changes in body mass composition, food intake patterns, and responses to different satiety peptides.
I also aim to determine the necessity of BBS5 gene in cognitive function. A multitude of paradigms such as novel object recognition and conditioned flavor preference tests will be used to study this. Completion of the proposed study is expected to advance our current understanding of the role of the BBS5 gene in metabolic function while illuminating altered neural pathways that might lead to the onset or progression of BBS.