Genomics in Rheumatic Diseases

Michael H. Weisman, MD, Consulting Editor
The current issue is one of a kind, bringing together basic, clinical, translational, and computational scientists into one space to address the role of genomics in Rheumatology. Lou Bridges and Carl Langefeld have done a remarkable job in accomplishing this feat.

Paula Ramos discusses the role of population genetics as a tool to understand the emergence of our diseases from past events of selection. Rachel Knevel and colleagues address genetic challenges where the disease is phenotypically heterogeneous and we have limited data on the functional significance of the findings. Van Drongelen and Holoshitz focus on the HLA alleles’ discovery and its impact on our understanding of the connection between genetic susceptibility and environmental triggers in rheumatoid arthritis (RA). Tony Merriman addresses the role of genetic discovery and its impact on urate metabolism and clinical gout, emerging fields of great interest in a disease for which we know a great deal yet have little impact on its frequency and severity in the real world. Hiraki and Silverman give us the pediatric perspective on genes and lupus by examining the clues to its pathogenesis from observations made in young-onset systemic lupus erythematosus from consanguineous marriages or in subjects with particularly severe disease. Hanson and Brown remind us that despite the remarkable heritability of ankylosing spondylitis and the old and new discoveries of HLA and non-HLA associations, we are still short in our knowledge about how these discoveries affect the pathogenesis of disease. Hersh and Prahalad remind us how much more we need to know about genetic risk for juvenile idiopathic arthritis, a remarkably heterogeneous collection of phenotypes.

Bluett and Barton address the gap in our understanding of how we can employ genetic data to aid treatment decisions in RA, otherwise known as the concept of personalized medicine. Okada and colleagues discuss the recent developments in human genome genotyping as we try to integrate large clinical and biological databases to promote novel drug discovery in the rheumatic diseases. Grammer and Lipsky are at the forefront of the emerging field of drug repositioning, and they discuss the multiple approaches to this major collaborative effort taking place among scientists from diverse fields. Oda and Kastner bring us up-to-date with their descriptions of how emerging genomic technologies contribute to the advancements in understanding of the autoinflammatory diseases. Laufer and colleagues get right to the heart of the dilemma of how to translate genetic discovery into practice in their review of the relationship between initiation and perpetuation of chronic rheumatic diseases.

Finally, as a bonus for this issue, we were able to include an excellent discussion of the clinical dilemma facing patients and their doctors regarding safety risks when corticosteroids are administered in pregnancy for disease control. This article simply did not arrive to production soon enough to be included in the previous excellent issue, highly recommended, on reproductive health in the rheumatic diseases.

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Sep 28, 2017 | Posted by in RHEUMATOLOGY | Comments Off on Genomics in Rheumatic Diseases
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