Plenary Session 7 - YEAR IN REVIEW

Genetics, Genomics, and Epigenetics

Date/Time: Monday, March 20, 2023 - 11:45 AM to 12:00 PM
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Osteoarthritis year in review 2023: genetics, genomics, and epigenetics

Osteoarthritis (OA) is a clinical syndrome that affects more than 50 million people in the U.S. with $185 billions in annual socioeconomic costs. Currently, there are no proven treatments to stave off, let alone prevent, progression of OA to total joint degeneration and surgical replacement, a costly procedure that can be associated with significant risks. Despite advances in preclinical studies, the pathways controlling early cartilage degeneration in OA remain unknown. Elucidating the underlying intracellular signaling pathways is therefore crucial for the development of effective treatments. Our recent understanding of the molecular processes underlying OA has been advanced through genetics, genomics and epigenetics. A number of OA genetic risk alleles have been reported, many of which have been functionally validated, and these data are integrated with genome-wide datasets in cartilage. Numerous transcriptomic studies have identified novel microRNAs and long non-coding RNAs in various knee joint tissues along with epigenetic studies that have examined DNA methylation, histone modifications and regulatory RNAs. Single RNA-sequencing studies have further illuminated the transcriptomic heterogeneity and identified novel molecularly defined (distinct) chondrocyte populations within the arthritic cartilage. In sum, genetics, genomics, and epigenetics are emerging as a toolbox that would allow clinical diagnosis, monitoring of OA disease progression, and identification of at-risk individuals.