Dr. Miller’s interest in the etiology of idiopathic scoliosis began during her fellowship at the University of Iowa while working with orthopedic surgeons Drs. Stuart Weinstein and Ignacio Ponseti in 1988. Being involved in the treatment of individuals with idiopathic scoliosis, she became increasingly aware of the significant impact that idiopathic scoliosis can have upon both the adolescent’s and family’s life. While treatments have advanced over time, they are primarily focused on the physical symptoms and cosmetic deformity. They fail to address prevention. Dr. Miller recognized that in order to develop personalized therapeutic interventions for idiopathic scoliosis, we need to advance our understanding of the etiology of idiopathic scoliosis and the mechanisms underlying disease susceptibility and severe progression.
Dr. Miller’s longtime commitment to research as it relates to her patients and clinical practice is reflected in her work over the last 25 years. Recognizing the role of inheritance in the clinical presentation of the disorder, Dr. Miller started collecting DNA specimens from families in 1992 at Baylor University where she was an assistant professor. This continued as she moved to Johns Hopkins University in 1995, and is ongoing today at the University of Colorado Anschutz Medical Campus. Dr. Miller’s study currently maintains an impressive database of samples from about 825 idiopathic scoliosis families and over 2800 participants, and are still enrolling new families!
Early linkage studies while at Johns Hopkins identified significant regions of interest within this familial population, of which many were subsequently replicated in independent populations. Most recently, Dr. Miller’s team used exome sequencing, which focuses on the protein coding aspects of the genome in a multigenerational family. A rare genetic variant in the HSPG2 gene was identified as potentially contributing to the idiopathic scoliosis phenotype. This variant was also overrepresented in a larger cohort of idiopathic scoliosis cases. As a result of this work, Dr. Miller and her laboratory were recently awarded an NIH R01 grant to continue this research within her large familial population, and to pursue follow-up studies of the HSPG2 discovery. Once genes are identified and validated in a second population, they will undergo functional testing in a zebrafish animal model. The overall aim of Dr. Miller’s research is to identify genes that contribute to the idiopathic scoliosis phenotype and provide entry points for the investigation of the mechanisms underlying disease susceptibility and severe progression of the deformity.
Please contact Anna Monley if you are interested in learning more about our study or if you would like to be added to our newsletter mailing or e-mail list.
What happens if I join this study?
• Review and sign a consent form
• Complete a study survey
• Visit Children’s Hospital Colorado if you live in the Denver area
• Provide a blood sample or spit sample
• Provide previous x-rays or possibly have x-rays taken
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!
Take our survey!
This study has been approved by the University of Colorado Anschutz Medical Campus, Children’s Hospital Colorado, and the Colorado Multiple Institutional Review Board (COMIRB). COMIRB is the review board at our institution that protects everyone enrolled in research studies. All information that we receive about you is strictly confidential.