Genetic Study of Bardet-Biedl Syndrome and Related Disorders

Regions: North Slave Region

Tags: health, genetics, northern community, obesity

Principal Investigator: Heon, Elise (2)
Licence Number: 13925
Organization: The Hospital for Sick Children, University of Toronto
Licensed Year(s): 2006 2005
Issued: Dec 05, 2005
Project Team: Dr. Sue Ponchilla, Dr. Mohsen Hosseini, Dr. Walter Ferrini

Objective(s): The researchers have identified the genetic basis of a blinding condition, known as Bardet-Biedl Syndrome (BBS), in Rae-Edzo. This condition is also associated with shortened life expectancy due to kidney failure and obesity. The researchers wish to: 1) determine the carrier frequency of the change identified, 2) determine if it is a marker for obesity, and 3) determine if it plays a role in other blinding conditions identified previously in the community of Rae-Edzo. Clarifying the true BBS phenotype will contribute to a better understanding of the biological processes involved and improve patient management.

Project Description: Bardet-Biedl Syndrome (BBS) is a multi-system condition that leads ultimately to blindness. This condition is also linked to shortened life expectancy due to kidney failure. Genital, digit and renal anomalies, obesity and a variable degree of cognitive impairment also characterize this disorder. The researchers have identified the genetic basis of BBS in Rae-Edzo. This study, which will be at least three years in duration, aims to clarify the true BBS phenotype in order to arrive at a better understanding of the biological processes involved as well as to improve patient management. Participants will receive a plain-language report that outlines the results of the study. The researchers, while on site, will also be available to provide information or educational sessions.