S. Louis Bridges Jr., M.D., Ph.D.The August 2017 issue of Rheumatic Disease Clinics — published as Genomics in Rheumatic Diseases — featured S. Louis Bridges Jr., M.D., Ph.D., and Carl Langefeld, Ph.D., as guest editors.
Rheumatic diseases, which affect joints and muscles, number more than 100 different diseases including osteoarthritis, a degenerative condition, rheumatoid arthritis, an inflammatory condition, and lupus, an autoimmune disease. Genomics is the study of the complete set of genetic material in cells.
Bridges is a professor in the University of Alabama at Birmingham Department of Medicine, where he directs the Division of Clinical Immunology and Rheumatology. He also holds the Anna Lois Waters Endowed Chair in Rheumatology. Langefeld is professor of biostatistical sciences at Wake Forest School of Medicine.
“Genomics research can potentially lead to improved diagnostic tests, more effective strategies for disease management, and better decision-making tools for both health care providers and patients,” Bridges and Langefeld said in the journal preface. “We are hopeful that the question is not if, but when, we will cross the threshold of integrating results of genomics research in everyday practice of medicine.”
The research is both complex and granular, they say.
“The field of genomics seems to constantly expand and now includes genome sequence, functional and comparative genomic analyses, bioinformatics, epigenomics/epigenetics, gene expression, gene regulation (including microRNAs), and metagenomics.” At the same time, they said, “through reductionist approaches, incremental gains provide optimism for better understanding of human diseases and their diagnosis, prevention and treatment.”
A further complication is that much of the development of rheumatic diseases is non-genetic, they say, influenced by environment, lifestyle, diet and other factors.
They also point to an ironic aspect of biomedical research. Two emerging themes in biomedical research to understand human disease seem headed in opposite directions: big data analysis — such as computational biology, systems biology and integrative biology — versus the emergence of single-cell technologies, such as single-cell RNA sequencing.
Opportunity to highlight UAB
As editors, Bridges and Langefeld focused on a subset of topics relevant to genomics in rheumatic diseases and on a subset of rheumatic diseases, including rheumatoid arthritis, systemic lupus erythematosus, gout, ankylosing spondylitis, autoinflammatory diseases and juvenile idiopathic arthritis.
They also wrote one of the articles in the issue, “Integrative approaches to understanding the pathogenic role of genetic variation in rheumatic diseases.” Co-authors were Vincent A. Laufer, a UAB M.D./Ph.D. student in the Bridges lab, and Jake Y. Chen, Ph.D., associate director and chief bioinformatics officer of the Informatics Institute at the UAB School of Medicine.
Bridges says he undertook the editor assignment as an opportunity to highlight UAB and provide a service to the field of rheumatic disease genomics by having up-to-date reviews in a single issue.
“In addition,” he said, “it gives trainees and young investigators who serve as co-authors an opportunity to synthesize the literature and gain experience in thinking about progress in the field, unanswered questions, next steps for research and other topics.”
Bridges estimates that he spent seven to 10 working days as guest editor, and saw several payoffs in knowledge and possible research projects. “I learned a lot about genetic influences in diseases that I don’t typically focus on,” he said, “and I have several new ideas, but no time to act on them as yet.”