Bardet-Biedl Syndrome: A Model for Translational Research in Rare Diseases

Publication date: Available online 14 June 2015 Source:New Horizons in Translational Medicine Author(s): Robert M. Haws , Anthony D. Krentz , Rachel V. Stankowski , Robert D. Steiner Bardet-Biedl syndrome (BBS) is a rare, multisystemic, genetic disease and member of a group of disorders called ciliopathies. This syndrome provides a mechanistic model for ciliopathies that may also extend to common disorders with complex inheritance patterns, including diabetes mellitus and obesity. Dysregulation of signaling pathways altering the cellular response to the extracellular environment is primary to the ciliopathies and characteristic of BBS. As BBS-centered translational research moves forward, innovative advances provide opportunities to improve the care of individuals with BBS and other rare diseases as well as common related conditions. This review aims to highlight the current understanding of the mechanisms underlying BBS and opportunities for advancing the care of individuals with rare diseases. Focal Points • Bedside Understanding the multi-dimensional manifestations of ciliopathies, specifically Bardet-Biedl Syndrome (BBS) as a model ciliopathy, will accelerate research into therapeutic targets for ciliopathies, allowing for improved therapies for individuals with these debilitating disorders. • Benchside Elucidating the molecular mechanisms of BBS is likely to increase the chance of discovering novel therapeutic approaches that may be generalizable to ot...
Source: New Horizons in Translational Medicine - Category: Research Source Type: research