DEVELOPING (EPI-)GENOME AND (EPI-)TRANSCRIPTOME SEQUENCING, BIOINFORMATICS AND AI PIPELINES FOR STUDYING THE NON CODING GENOME IN HUMAN HEALTH AND DISEASE
Cancer is a leading cause of morbidity and mortality in Alberta and worldwide. Decades of advances in genomic sequencing technology, therapeutics, and the understanding of the genetic causes of cancer have consolidated into making precision cancer care a reality. Traditionally tumors have been classified based on anatomic site and microscopic morphology and treated according to generalized guidelines or empirical decisions. However, during the recent years large-scale cancer genomics research has revealed the uniqueness of each tumor's genetic profile and has transformed modern cancer diagnosis and treatment. Thus, targeted therapies give nowadays oncologists the ability to customize treatments to their patients instead of applying one-size-fits-all solutions. However, availability of personalized genomics services in Canada is currently limited to a small number of patients in connected to major cancer care centers. One limiting factor that hinders the expansion of cancer precision health is that the process of genome interpretation remains a manual and time-consuming process. The goal of our research is to devise strategies that will enable the process of high volume of patient cases, low turnaround time and consistency in results reported to the physicians. To address these problems our Lab works on the automation of the curation process and the creation of standardized cancer precision medicine reports.
Dementia is another disease that can benefit from personalized medicine approaches. Along the well-established paradigm of the benefits of precision medicine in cancer care, our Lab focuses on the development of early genomics diagnostics for dementia. We aim to characterize the patterns in non-coding RNAs in dementia patients and establish non-coding RNA biomarkers that will be informative for the disease’s onset.