About Our Lab

    Our reasons for studying the genetics of AIS are numerous.  First, AIS has a high prevalence within the general population.  In severe cases, an individual might have long term problems related to the physical deformity, possible surgery, lung problems, back pain, and late degenerative disease of the back.  Screening programs in schools have improved earlier diagnosis, but are expensive and are not in use everywhere in the country. If the gene could be identified, screening and diagnosis could be made simpler.  Secondarily, not all curves progress to a severe degree. Identification of individuals who are at risk for curve progression is important.  We cannot tell at the moment who these individuals are. Identification of the gene may help us decide who is likely to progress. Currently, the only early treatment for scoliosis that may be effective is a back brace. The placement of a young adolescent into a back brace can have a profound effect on his/her  life and self-esteem. For curves of significant degree, the only treatment is spinal fusion, a major impact in spinal mobility. Identification of a gene may allow us to select individuals who will respond to a brace or will need surgery.

    Most importantly, the location of the gene for AIS would help the development of a test for accurate, early diagnosis of AIS.  If we could diagnose scoliosis early or before the curve appears, we may be able to develop methods to prevent the scoliosis itself. This study has been approved by the Johns Hopkins University Joint Committee on Clinical Investigation since July 1995.