Research Project

Summary

A valuable aspect of the Human Genome Project lies in its promise of better understanding and treatment of human diseases. The more we know about the genes that underlie disease, the more skilfully we can devise treatments.  A genetic disease rarely flows from a single error in one gene; although it may be the primary cause, the complexity of the human body almost ensures that other genes will have played a role. A case in point is the gene which, when defective, causes cystic fibrosis (CF). Because of the pioneering work in the 1980s of researchers at the Hospital for Sick Children (Toronto) we know that all CF patients are defective in the gene CFTR, which instructs the cell to make a protein that moves ordinary chlorine ions into and out of cells. Yet even in patients with the identical genetic change in CFTR, the severity of CF can vary widely. The reason must be that other genes interact with CFTR to alter the course of the disease.

The aim of this research project was to use the most up-to-date genomic methods to find as many of these other genes as possible. This kind of study thrives on close co-operation between medical doctors and research scientists. It requires very careful diagnosis and description of disease symptoms. A prerequisite is a strong organization that can identify patients and their families all across Canada, obtain samples from them for genetic analysis, and record and analyse the results.

The project team collaborated with all 38 Canadian CF clinics to establish a study group of over 75% of the entire Canadian CF population.  The team collected blood samples from almost 2,800 CF families, including some from foreign sources. It extracted DNA from these people and also established tissue-culture cell samples for future research - now the world’s largest resource for CF genetic studies. The researchers’ analyses of the extracted DNA using sophisticated genetic techniques have identified almost 100 genes that potentially could affect the progression of CF.

Fast Facts

• Highlighted outcome:  The world's largest repository of family-based cell lines for clinical-genetic studies; identification of genes that potentially affect the severity of CF.
• Number of research personnel: 19.
• Number of peer-reviewed publications:  1 plus 4 indirectly.
• Resources generated: World's largest repository of family-based cell lines for clinical-genetic studies; the Cystic Fibrosis Mutations Database; the Canadian Consortium for Cystic Fibrosis Genetic Studies.
• Number of public outreach events held: 27 (public lectures, magazine articles, website, and communications with CF families).