• Grants & Awards
  • Progress Reports
  • Fund Allocation Guide
• Current Research
• Research Overview
• Research Funding Program
• Past Research
  • 2009/2010
  • 2008/2009
  • 2007/2008
  • 2006/2007
  • 2005/2006
  • 2004/2005
• Strategic Research Partners
• Funding 1974-2008
• Scientific Advisory Board
• Position Statements

Redefining Bardet-Biedl Syndrome in an Ethnically Diverse Canadian Population

Elise Héon, M.D.
Department of Ophthalmology
The Hospital for Sick Children, Toronto, Ontario

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder that ultimately leads to blindness because of early and severe retinitis pigmentosa (RP). BBS also includes genital, digit and renal abnormalities, obesity and a variable degree of developmental delay among other features. In addition to being a good model for RP, BBS provides a model to study common clinical problems such as obesity and hypertension. Four BBS genes have been identified and they are thought to account for the majority of cases. We propose to provide the first large-scale, comprehensive clinical and molecular analysis of Canada's ethnically diverse BBS population. We hypothesize that:

1. The genetic basis of an ethnically mixed population with BBS will be different from that of isolated populations
   
   
2. The clinical spectrum of BBS is greater than currently recognized, and
   
   
3. Multi-allelic inheritance does not play a major role in BBS.

We will:

1. Define the role of known BBS genes in a large Canadian BBS population (n=70) using a combination of genetic mapping and mutational analysis
   
   
2. Assess the potential overlap with other syndromes such as Alström and
   
   
3. Re-define the phenotype of BBS.

These steps will contribute to better understanding of the biological processes involved, patient management and will provide a good basis for eventual therapeutic intervention. Improvement of vision in these individuals would play a critical role in changing their quality of life.