A member of the Faculty of Medicine has published an article in a prestigious international journal for his research on a form of arthritis that impacts many people of all ages in the community.

Dr. Darren O’Rielly is a senior research scientist in the Faculty of Medicine with Memorial University and is the director of the Molecular Genetics Laboratory with Eastern Health.

His research focuses on psoriatic arthritis, which is a type of inflammatory arthritis that attacks the joints in combination with psoriasis, an autoimmune disease that attacks the skin.

Private Rare Deletions in SEC16A and MAMDC4 May Represent Novel Pathogenic Variants in Familial Axial Spondyloarthritis was accepted in the Annals of Rheumatic Diseases, which is the official scientific publication of the European League Against Rheumatism (EULAR) and a journal that focuses on rheumatology.

EULAR is an organization that represents people with arthritis/rheumatism, health professionals and scientific societies of rheumatology of all the European nations. Each year, clinicians and researchers from around the world gather at the EULAR conference to discuss the latest research in rheumatology. The conference this year included participants from 120 countries.

Also working on the research is Dr. Proton Rahman, associate dean of clinical research in the Faculty of Medicine. Dr. Rahman is a clinicial scientist and professor of medicine at Memorial and staff rheumatologist at Eastern Health.

While the Rahman-O’Rielly research team is responsible for the design of the study, whole exome sequencing using next-generation sequencing technology and subsequent analyses was performed at the The Centre for Applied Genomics in Toronto, Ont.

With the opening of the translational genomics laboratory and the Centre of Health Information and Analytics in the Craig L. Dobbin Centre for Genetics Research, whole-exome sequencing is now routinely performed in-house at Memorial. An analysis pipeline has also been developed for analysis of next-generation sequencing data―a big step forward for genomics research in the Newfoundland and Labrador.

This research has been funded in part through the Atlantic Canada Opportunity Agency – Atlantic Innovation Fund, the Research & Development Corporation of Newfoundland and Labrador and the Canadian Institute for Health Research.