Dr. Darren D. O'Rielly, PhD, FCCMG
Director, Molecular Genetics Laboratory (Eastern Health); Director, Translational Genomics Laboratory (Faculty of Medicine, Memorial University); Adjunct Professor (School of Pharmacy and Faculty of Medicine, Memorial University)
Eastern Health; Memorial University
Hereditary breast cancer, hereditary ovarian cancer, psoriasis, psoriatic arthritis, ankylosing spondylitis, complex diseases, multi-omics, massively-parallel sequencing
The overarching goal of our research is to discover novel pathogenic variants that provide immediate cancer risk information to women with HBOC and their families, leveraging the power of a founder population. The contribution of rare, highly penetrant variants to HBOC susceptibility has largely remained unexplored until the advent of massively parallel sequencing. Our HBOC team is utilizing a familial-based rare gene, common disease model, combined with a multi-omics approach to discover novel pathogenic variants.