Identification of the Most Common Gene for Bardet-Biedl Syndrome

Unmet Need
Currently nine BBS(1-9) genes have been discovered and they account for only 40-50% of all mutations that result in BBS. This technology comprises of BBS10, a novel BBS gene whose mutational involvement in the disease makes it an attractive diagnostic and therapeutic target. Other advantages include:

• Diagnostic test applications in pre-natal and antenatal screening
• BBS10 encodes a previously unknown, rapidly evolving vertebrate-specific chaperonin-like protein
• BBS10 mutations are found across various ethnic groups
• Potential applications in prominent therapeutic areas of familial obesity, retinal degeneration and kidney failure syndromes

 
Technology Overview
Researchers from Johns Hopkins University, Baylor College of Medicine, University Louis Pasteur and the University of Strasbourg have discovered a novel gene locus, BBS10, which accounts for 20% of all mutations resulting in BBS. To identify new BBS genes, genome-wide scan in a large, consanguineous pedigree of Lebanese origin were performed. The identification of BBS10 as a major locus for BBS across ethnic groups will have profound diagnostic consequences and warrants detailed phenotype-genotype correlation studies.
 
Stage of Development
Discovery
 
Publications
Stoetzel C et al Nature Genetics (38), 521-524
US 8163482
 

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