Maja Tarailo-Graovac

My research program uses multidisciplinary approach (human and model organism genomics; ‘wet’ and ‘dry’ lab approaches) to understand the genomics of rare human disorders. As I continue to work on improving the diagnostic potential of genome-wide sequencing (e.g. detection of ‘all’ classes of genetic variation in a single test and discovery of novel gene-disease associations), I seek to understand genetic contributors to phenotypic variability in rare disorders. Namely, my research combines an elegance of Caenorhabditis elegans’ genetics/genomics with human genomics to understand why two individuals with the same rare disease-causing variant may have different clinical presentation of the disease (severe-mild-none)? In other words, I am asking whether other variants in a genome exist that may alleviate or exacerbate the severity of the disease-causing variant. Identification of such genetic modifiers provides important information about biological networks of human disease genes, and ability to accurately interpret variant pathogenicity in context of an individual genome, not unlike personalized medicine. This in turn allows for better disease prognosis, prevention and patient management. Furthermore, knowledge of genetic modifiers (suppressors in particular) may reveal natural health protectors and hence therapeutic targets, an urgent need for rare disorders (>95% do not have a single FDA approved drug).