What Rare Diseases Can Tell Us About OA

Keynote Address

Date/Time: Thursday, April 30, 2020 - 6:00 PM to 6:45 PM
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What Rare Diseases Can Tell Us About OA

Research on the extreme phenotypes observed in rare diseases can help elucidate the pathogeneses of more common disorders, a phenomenon recognised as long ago as the 17th century by the renowned physician, William Harvey. In monogenic disorders, the phenotypes are often very severe and disease progress is rapid making it is easy to identify pathological changes. Several therapies for common diseases, including the blockbuster drugs statins and bisphosphonates, were discovered in part through the study of rare syndromes. However, the potential impact on osteoarthritis of studying rare cartilage syndromes has been largely neglected. In my presentation, I will highlight how recent research on rare diseases affecting cartilage, including chondrodysplasias and alkaptonuria (AKU), has provided new insights into osteoarthritis disease mechanisms. One exciting example is the discovery of high density mineralised protrusions (HDMPs), which were initially recognised in the severe, early onset osteoarthropathy associated with AKU but have subsequently been found in common osteoarthritis, where they may play a central role in the destruction of cartilage.

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