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  • 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

Research Interests:

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.

Involvement with BHCRI to date:

Dr. Darren O'Rielly is an Associate Member


(709) 777-2416



Craig L. Dobbin Genetics Research Centre, Suite 3M511, 300 Prince Philip Dive, St. John’s, NL, CA, A1B 3V6


Lebo MS, Zakoor KR, Chun K, Speevak MD, Waye JS, McCready E, Parboosingh JS, Lamont RE, Feilotter H, Bosdet I, Tucker T, Young S, Karsan A, Charames GS, Agatep R, Spriggs EL, Chisholm C, Vasli N, Daoud H, Jarinova O, Tomaszewski R, Hume S, Taylor S, Akbari MR, Lerner-Ellis J; Canadian Open Genetics Repository Working Group. Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR). Genet Med. 2018;20(3):294-302.

Lehr J, Rahman P, O’Rielly DD. High accuracy and significant savings using tag-SNP genotyping to determine HLA-B*27 status. J Rheumatol 2017: J Rheumatol. 44(6): 962-963.

Pater JA, Benteau T, Griffin A, Penney C, Stanton SG, Predham S, Kielley B, Squires J, Zhou J, Li Q, Abdelfatah N, O'Rielly DD, Young TL. A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect. Hum Genet. 2017;136(1):107-118.

Uddin M, Codner D, Hasan SM, Scherer S, O'Rielly DD, Rahman P. Integrated Genomics Identifies Convergence of Ankylosing Spondylitis with Global Immune Mediated Disease Pathways. Sci Rep. 2015;5:10314.

O’Rielly DD, Uddin M, Codner D, Hayley M, Mostafa AA, Hasan MSH, Liu W, Haroon N, Inman R, Rahman P. Rare deletions in SEC16A and MAMDC4 may represent novel pathogenic variants in familial axial spondyloarthritis. Ann Rheum Dis. 2015; pii: annrheumdis-2014-206484.

Uddin M, Maksymowych WP, Inman R, Gladman D, Munn A, Yazdani R, Pellett F, Hamilton S, O'Rielly DD, Rahman P. UGT2B17 copy number gain in a large ankylosing spondylitis multiplex family. BMC Genet. 2013;14:67.

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