Molecular and genetic mechanisms of obstructive lung disease

Asthma and chronic obstructive pulmonary disease (COPD), also known as emphysema, are major causes of disease and death worldwide. The prevalence of asthma is increasing, and in some Canadian communities, up to 20 per cent of children are affected. Globally, emphysema ranks twelfth as a cause of lost quantity and quality of life, and is projected to rank fifth by the year 2020 as smoking and air pollution increase around the world. Significant gaps exist in our understanding of these disorders, and while limited therapies are available, none is universally effective or without side effects. I am examining genetic susceptibility for asthma and COPD. Many people smoke and are exposed to allergens, but only a small percentage develop asthma or COPD. For example, cigarette smoking is the major risk factor for COPD, but only 10-20 per cent of smokers develop the disease. Similarly allergy is common, but only some individuals develop asthma. The evidence suggests that susceptibility runs in families, but few genetic risk factors have been identified. My research team is using a registry of lung tissue from patients who have had lung surgery, as well as DNA from large groups of individuals who have these conditions, to identify the genes that account for this susceptibility. We want to discover the molecular mechanisms that cause asthma and COPD, and to predict if an individual's genetic makeup puts them at increased risk for these disorders. Ultimately, this research should increase understanding of these disorders and contribute to the development of new diagnostic tests, preventative strategies and therapies.