title: Lifting the lid on Pandora's box: the Bardet-Biedl syndrome.
abstract: Progress in understanding the cause of the once obscure condition Bardet-Biedl syndrome (BBS) has been rapid since 2003. That BBS is now known to be a disorder of cilia and basal body function has been facilitated by the recent discovery of the novel genes BBS3, 5, 7 and 8 (eight BBS genes in total) and confirmed by the generation of genetic model systems in mice, Chlamydomonas, Caenorhabditis elegans and Drosophila melanogaster. These discoveries have been aided significantly by several elegant comparative genomic exercises, highlighting the utility of such approaches. The high level of species conservation and genetic heterogeneity indicates the fundamental importance of this family of genes and the pathways in which they operate. In the next few years, these pathways will be revealed, and their impact on the development of systems as diverse as the cardiovascular, neurological, endocrinological and skeletal will be realized.
authors.affiliation: Molecular Medicine Unit, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK. pbeales@hgmp.mrc.ac.uk
authors.forename: Philip L
authors.initials: PL
authors.lastname: Beales
mesh_terms: D000818:Animals; D020788:Bardet-Biedl Syndrome / Q000235:genetics*; D002923:Cilia / Q000378:metabolism / Q000473:pathology; D014644:Genetic Variation / Q000235:genetics; D023281:Genomics; D006801:Humans; D009765:Obesity / Q000235:genetics