Genetic Study of Bardet-Biedl Syndrome and Related Disorders

Régions: North Slave Region

étiquettes: health, genetics, northern community, obesity

chercheur principal: Heon, Elise (2)
Nᵒ de permis: 13743
Organisation: The Hospital for Sick Children, University of Toronto
Année(s) de permis: 2006 2005
Délivré: févr. 14, 2005
Équipe de projet: Dr. Sue Ponchilla Dr. Mohsen Hosseini Dr. Walter Ferrini

Objectif(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.

Description du projet: 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.