All long bones in the body grow by a biological process known as endochondral ossification. This process is very complex and tightly regulated by many different genes. It is therefore not surprising that any disruption to this process can have a dramatic effect on bone growth and results in human bone conditions such as disproportionate short stature and osteoarthritis.
Over the last 15 years we have learnt much about the genes that are involved in bone growth and identified many different mutations that cause human bone diseases. However, identifying disease-causing mutations is only the first step in understanding why the bones are short and misshapen in these conditions.
Research into human bone diseases has been hampered by a lack of suitable tissues (i.e. bone and cartilage) from children with these conditions. To address this problem we have used genetic techniques to generate mice that have human mutations and therefore have a similar bone disease. We can isolate bone and cartilage from these mice and use this tissue to understanding the disease processes in patients with the same mutations. Ultimately this research will pave the way for developing suitable therapies for the patients with these crippling conditions.