Defining the role of aggrecan and type IX collagen in osteoarthritis and osteochondritis dissecans through in vivo studies of genetic bone diseases

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Diseases that affect the bones and joints of the human body can range from rare diseases, which result from mutations in a single gene (monogenetic bone diseases) to common conditions that result from a number of factors including a combination of complex genetic mutations, injury and lifestyle. Rare and common skeletal diseases share many features and disease pathways in common. It is therefore long recognised that studying disease processes in the rare skeletal diseases can help our understanding of disease processes in common conditions such as arthritis.To this end we have been using genetically engineered mice to study disease processes in a group of rare human bone diseases, which also cause osteoarthritis (OA) and another painful condition known as osteochondritis dissecans (OCD), a disease that primarily affects children. We have shown that specific malformed structural proteins - the building blocks of cartilage - can cause problems with the way that cartilage is made and this renders it more susceptible to OA and OCD. We therefore plan to study these genetically engineered mice 'models' of human bone disease in greater detail, to understand disease process, which will eventually allow us to develop new therapies for these currently incurable common diseases.