To discover the cause of AIS, we are studying 150 British families with at least 3 living affected members.
The aims of the proposed research are as follows:
- To determine the proportion of a consecutive series of familial AIS cases due to deficient fibrillin-2 or other musculoskeletal protein, through linkage studies and subsequent mutation analysis of linked families
- To add to and maintain a database and blood sample collection of UK families with dominantly inherited AIS, so that they can be studied repeatedly until genetic basis of this condition in each family is determined
- To contribute any mutations to the international maps of the genes concerned, to determine if there is clustering of mutations which produce scoliosis
- To use this information, to enable surgeons and physicians to provide better advice to affected individuals and their families, regarding aetiology, risk of developing scoliosis, and optimum management programme based on this new understanding
Ultimately, to help develop improved therapy, genetic, medical or surgical, based on a new understanding of the causes of idiopathic scoliosis.