Searching for the genes that cause Adolescent Idiopathic Scoliosis

It is widely recognised that there is a genetic predisposition to adolescent idiopathic scoliosis, and an international consortium of concerned physicians and molecular geneticists has been assembled to investigate the underlying basis. Approximately 30% of people with idiopathic scoliosis have an affected first degree relative with scoliosis. The British adolescent idiopathic scoliosis family database is held at St George’s Hospital Medical School and consists of families referred by orthopaedic surgeons, as well as volunteer SAUK members. 

Discovering the underlying genes could lead to future preventive measures by detecting those at risk by a simple blood test in such a family, and providing more specific genetic therapy or medical therapy based on an understanding of the main cause of scoliosis. At present, many children with scoliosis are not diagnosed until the curve is too great to attempt correction by bracing, and surgery is the only approach. Our study, at St George’s Hospital, is looking for the genes which cause scoliosis, and we have at least one possible gene which we are investigating. The excellent response to our study from members of SAUK has helped us build a national database of families with adolescent idiopathic scoliosis, and to take blood samples for DNA to help us find the genes. 

If you have three or more living family members with idiopathic scoliosis, and wish to help us with this study, please contact:

Dr Anne Child
St George’s Hospital Medical School
Cranmer Terrace
London
SW17 0RE

Telephone and Fax: 0208 725 5248

National Scoliosis Register

The BSRF is setting up the first ever National Scoliosis Register in the UK.  The purpose of the register will be to facilitate the study of adolescent idiopathic scoliosis with a view to establishing the cause or causes of the condition, and to provide better understanding of scoliosis and its management.  It is intended that the register will house information for at least 2000 and up to 10,000 individuals with idiopathic scoliosis and other forms of scoliosis affecting adolescents and young adults.  It will be piloted in Oxford and Manchester and rolled out to other scoliosis centres in the following months.  The BSRF are currently waiting for ethical approval to move forward with the register.  In the future, SAUK members may be able to get involved with the register if it is rolled out across the UK but we will keep you updated with its progress.  For more information visit: www.bsrf.co.uk.