Joanna Lubieniecka

Despite significant progress in the discovery of genetic factors which contribute to the variability in human traits, for both diseased and healthy phenotypes, a large proportion of the heritability for many traits remains unexplained, or ‘missing’. Many potential causes have been proposed to explain this missing heritability, including incorrect estimates of trait heritability, epigenetic effects, incorrect assumption of additive effects for polygenic models, many variants with very small effect underlying the phenotype, causative variants being too rare to establish causality, poorly defined/imprecise phenotypes, or simply a technical limitation of current genome analysis methods to detect all genetic variation.   My research interests focus on finding genetic factors that can explain a diseased phenotype in patients for whom standard testing did not reveal any known genetic aberrations. To do this, I am applying novel molecular genetics methods (for example long read sequencing) to look for variants that were potentially missed with standard diagnostic tests. In addition, I believe that some diseases, especially those with a late onset, are caused by an interaction between a genetic variant and an environmental trigger. Therefore, I am also interested in research on statistical modeling that includes testing for effect of gene-environment interaction.