Overview



Half of all adults are affected by bone and cartilage disorders


It is estimated that an osteoporotic fracture occurs every 3 seconds with 1 in 3 women and 1 in 5 men over 50 being affected by the condition. Similarly, up to 1 in 5 women and 1 in 10 men over the age of 60 will be affected by osteoarthritis. There is currently a lack of understanding of the mechanisms that underlie these bone and cartilage diseases, resulting in a lack of suitable, effective treatments. Consequently, there is an urgent need to improve understanding of the causes of bone and joint disease, and identify new disease models to develop better treatments.

Available treatments for osteoporosis reduce fracture risk by only 50%, there are few approaches to restore bone mass and the effectiveness of current drugs is limited by side effects and patient acceptability. The pathogenesis of osteoarthritis is poorly defined, no drugs are currently available that prevent or delay disease progression and no biomarkers have been defined. Thus, there is an urgent need to improve understanding of the mechanisms that cause bone and joint disease, and develop better treatments.

An international effort is underway to delete all protein coding genes in order to provide disease models that will facilitate studies of disease susceptibility, gene function and new treatments. This program is being carried out by the International Knockout Mouse Consortium (IKMC), with characterisation of mutant strains undertaken by the International Mouse Phenotyping Consortium (IMPC). The Wellcome Trust Sanger Institute (WTSI) Mouse Genetics Project (MGP) is a major contributor, generating approximately 160 new knockout mouse lines per year and performing broad-based primary phenotype analysis.