Dr. Miller’s study currently maintains an impressive database of samples from about 825 idiopathic scoliosis families and over 2800 participants. Our study has been enrolling subjects since 1992, first at Baylor University and then at Johns Hopkins University. Dr. Miller moved to the University of Colorado Anschutz Medical Campus and Children’s Hospital Colorado in 2006, and we are still enrolling new families from here!
Have you already participated in our scoliosis study?
If you have already contributed to our research study, we would appreciate it if you would take the time to complete the survey found at the link below. It will be a huge help to us to update our family files with any new information about your family, including any new family members!
Any information provided through this survey will be kept secure and will be added to your confidential file.
Thank you for your ongoing participation in our study. We couldn’t do our research without families like yours!Ą
Take our survey!
Why study idiopathic scoliosis?
We have many reasons for studying the genetics of idiopathic scoliosis. First, scoliosis is the most common spinal deformity and occurs in 2-3% of the general population. In severe cases, a person might have long term problems related to the physical deformity, including possible surgery, lung problems and back pain. The identification of genes that cause scoliosis would help us develop a test for accurate, early diagnosis of the disease. If we could diagnose scoliosis early or even before the curve appears, we may be able to develop methods to prevent the curve from forming in the first place.
Second, screening programs in schools have resulted in some earlier diagnoses, which can prevent severe curve progression in some cases. These screening programs are costly and are not used everywhere in the country. If a gene could be identified, screening and diagnosis could be more accurate.
Lastly, not all curves progress to a severe degree. We need to be able to identify people who are at risk for developing severe curves. Currently, we cannot tell which people will get worse and which will not. One 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 their life and self-esteem. Discovery of a gene may allow us to select people who really need a brace and also may modify current treatments.
What are our ultimate study goals?
Idiopathic scoliosis (IS) is the most common deformity of the spine in children, with an estimated annual cost of over $3 billion per year. Individuals with IS face lifelong issues, including cosmetic deformity, bracing, and surgery, with females at the greatest risk for severe disease. Family history is a known risk factor for IS, but the genetic causes of the disease are not well understood. We are currently using exome sequencing and zebrafish functional models to discover new genetic variants important to the development of IS. We are also interested in whether tissues relevant to IS— for example, bone and cartilage— harbor transcriptional differences between IS and control individuals. In separate projects, our lab is currently analyzing the transcriptomes of different tissues from IS individuals via RNA sequencing. We believe that these projects will help to discover new genetic regions important to IS, shedding much needed light on the disease process, advancing diagnostics, and paving the way for novel therapies.