Junchul Kim

2004 Research Trainee Award, Senior Graduate Studentship

Functional characterization of Bardet-Biedl proteins

Bardet-Biedl Syndrome (BBS) is a complex genetic disease that affects many different body parts, including the eyes, kidney and heart. Symptoms include blindness, obesity, diabetes, kidney dysfunction, congenital heart defects and extra fingers or toes. At least eight genes (BBS1 to BBS8) are linked to the syndrome. Recent studies suggest that defective cilia (short, hair-like projections that protrude from the cell surface and help clean out airways) may be the primary cause of the syndrome. Junchul Kim is investigating whether this defect causes Bardet-Biedl Syndrome. He is studying the role of proteins encoded by BBS genes to see if mutations in these genes affect different body parts during development. This research could provide insights into how the syndrome develops and potentially lead to new treatments for many common disorders, such as diabetes and obesity. Completed award term, August 2005

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