The identification and characterization of candidate Bardet-Biedl Syndrome genes and/or genes specifically involved in ciliary functions

Bardet-Biedl syndrome (BBS) is a complex genetic disease with symptoms that include obesity, blindness and kidney dysfunction. Although seven genes linked to the disease have been cloned, the molecular origin of the syndrome remains unclear. Using Caenorhabitis elegans (a tiny worm) as a model for BBS, Dr. Oliver Blacque’s previous research contributed to the finding that a primary cause of the disease is likely to be malfunctioning cilia, which are finger-like projections that naturally protrude from many human cells. Cilia malfunction has also been shown to cause other conditions including polycystic kidney disease and retinal degeneration. Dr. Blacque is now investigating how cilia operate at the molecular level. He is using tools of bioinformatics (management of biological information with computer technology) and genomics (study of genes) to identify proteins that operate exclusively in cilia and to investigate their functions. The research could improve understanding of the role of cilia in human disease and lead to the discovery of new proteins that cause Bardet-Biedl syndrome and other cilia-related diseases.