Impacts of CIHR-funded research: Genetics
[ Table of Contents ]Discovery of gene linked to Bardet-Biedl Syndrome
Hereditary disorder is often fatal
Overview
Bardet-Biedl Syndrome (BBS) is a potentially fatal hereditary disease characterized by blindness, obesity, kidney dysfunction and learning disabilities. It affects men more than women and, although quite rare, has a high incidence in Newfoundland (one in 17,000, compared to an overall incidence of one in 160,000). It is one of a family of diseases called ciliopathies. Drs. Michel Leroux and Oliver Blacque of Simon Fraser University discovered the sixth gene to be linked with the disorder, called BBS8. They have also cloned other genes implicated in BBS, notably BBS3 and BBS5.
Impact
The work of Drs. Leroux and Blacque has had an impact, not only on BBS research, but on cilia research more generally. While their work has had an impact in advancing biomedical knowledge, it could also help in the development of tests to screen for and correct the cellular defects linked to the development of BBS.
First Published
CIHR Health Research Results, 2003-04; updated 2009
Yeast: Good for more than just beer or bread
Landmark study reveals protein interactions
Overview
Proteins are the workhorses of all living organisms, carrying out all the cellular processes necessary for life. But, as powerful as they are on their own, their true power and complexity comes from the work they do together, in their interactions. A team led by Drs. Jack Greenblatt and Andrew Emili of the University of Toronto has recorded the most comprehensive and reliable map of protein interactions in a living organism – in this case, yeast – to date.
Impact
The structure and interactions of proteins in yeast cells are virtually identical to those in humans. The research will help, therefore, in the study of many human diseases that result when proteins and protein interactions go awry. The team has extended its mapping effort to study the physical interactions of membrane proteins – the interface of a cell with its environment, which is biologically important but has previously been difficult to measure.
First Published
CIHR Canadian Research, International Impact, 2007; updated 2009