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Sports related orthopedic injuries such as meniscal tears and anterior cruciate ligament (ACL) ruptures have immediate symptoms of pain, swelling, and loss of mobility. Importantly though, these injuries are strong risk factors for the future development and progression of chronic joint disease such as osteoarthritis (OA). Given the large costs related to treatments of OA, a better understanding of the genetic and molecular mechanisms of the disease are critical.

Towards this goal, the John P. Hussman Institute for Human Genomics has established an ongoing collaboration with the University of Miami Sports Medicine Institute. The objective of this team is to identify specific functional genetic changes resulting from injuries leading to OA. The long term goal of this research is to translate these findings into personalized therapies ranging from physical therapy, drug regimens, and/or patient specific stem cell treatments tailored to each patient depending on the genetic signature of disease.

Our work has begun to characterize the extracellular RNA (exRNA) profile from the synovial fluid and plasma from a subset of these individuals to begin to understand their role in injury response and OA initiation (Click Here to read our study). Ongoing studies are working to increase sample sizes, include great patient ancestral diversity, and applying new technologies such as single cell RNA sequencing. Using genomics as a bridge between clinical sports injuries, animal modeling, and molecular outcomes make this a key area of research for the HIHG.

This project is lead in the HIHG by Drs. Anthony Griswold, Jeff Vance, and Margaret Pericak-Vance. The Sports Medicine Institute team is lead by Drs. Lee Kaplan and Thomas Best.

For more information on sports medicine treatments and research please visit the Sports Medicine Institute by clicking the link below.

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