While more than 1100 pharmacogenomics associations have been discovered, only a small fraction of these findings have been translated into clinical practice (i.e. based on guidelines from the Clinical Pharmacogenetics Implementation Consortium (CPIC)). One reason for the low clinical implementation rate is that the majority of associated variants are not causal but are in linkage disequilibrium with the causal variants, which have yet to be identified. In this study, we aim to identify potentially causal variants in the well-established pharmacogenomic genes.
Classic candidate gene and genome-wide association studies (GWAS) have identified hundreds of genetic associations with asthma but these are poorly replicated and account for only a fraction of the heritability. We aim to identify potentially causal or regulatory variants across these associated genes, which could explain part of the missing heritability and reproducibility across studies.
Genes and environment interact, during early life, to determine lung function and early lung function growth trajectory. We hypothesize that genetic susceptibility plays an important role in both lung function values and mediating effects of exposures on lung function. The aim of our study is to determine if genes related to lung development and inflammation are associated with lung function values in children and whether these validated genes result in altered lung function trajectories (over the first 5 years of life). This is a collaborative project with the CHILD (Canadian Healthy Infant Longitudinal Development) Study and funded by the Canadian Institute of Health Research (CIHR).
The estimated cost of asthma care in Canada is $600 million per year, with half of this cost used by less than 10% of patients. Some of these “difficult-to-treat” patients are responsive to a new class of drugs meant to reduce inflammation by targeting a specific immune cell called eosinophils but there is inter-individual variability in response. The goal of our research is to understand why certain people respond to these drugs while others do not, in an effort to identify new biomarkers of drug response. This work is funded by the Queen’s University Research Leaders’ Initiative and in collaboration with Dr. Parameswaran Nair, a respirologist at the Firestone Institute for Respiratory Health in Hamilton, ON, (also co-investigator in the AllerGen and Canadian Respiratory Research Networks (CRRN)).