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: 13743
Organization: The Hospital for Sick Children, University of Toronto
Licensed Year(s): 2006 2005
Issued: Feb 14, 2005
Project Team: Dr. Sue Ponchilla Dr. Mohsen Hosseini Dr. Walter Ferrini

Objective(s): The Hospital for Sick Children has identified the genetic basis of a blinding condition in Rae-Edzo: Bardet-Biedl Syndrome (BBS). This condition is also associated with shortened life expectancy due to kidney failure and obesity. Other First Nations communities have been studied because of their increased incidence of obesity and co-morbidities. 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. Participants are to receive a plain-language explanation of the ways in which their genetic material will or will not be used. Participants need to be fully informed of the implications of signing the consent forms, including the property rights to their genetic material.

Project Description: The researchers from the Hospital for Sick Children have identified a genetic basis for a disease that can cause blindness, kidney failure, and obesity. This disease was identified in 1992 in some people in Rae-Edzo. The researchers would like to learn more about it so that doctors can take better care of the patients who have it. The current study is year one of a study that could be three or more years long.