Genomics of pediatric scoliosis innovation platform: from genes to comprehensive diagnostic assays

Principal Investigator: Alain Moreau
Theme : Health
Competition : Genomics research in human health - translational stream
Status : Completed
Start : Oct. 1, 2010
End: Sept. 30, 2014
Budget : $2,000,000.00

Spinal deformities and scoliosis in particular, represent the most prevalent type of orthopedic deformities in the pediatric population, while adolescent idiopathic scoliosis (AIS) represents the most common form of scoliosis. One out of every six children diagnosed with scoliosis will have a curve that progresses to a degree that requires active treatment, which, in 2009, represented more than one million patients in the US alone. Therefore, there are great needs for innovative molecular diagnostics assays to identify asymptomatic children at risk of developing scoliosis, and symptomatic ones to predict who may be at risk of scoliotic curve progression.

As with many of the most complex and devastating diseases, scoliosis has a strong genetic basis. Although advancements in genomic technologies are transforming many aspects of how we conduct genetics and genomics studies, there is still only limited success thus far to report in deciphering complex diseases like AIS. This is largely due to the lack of relevant stratification schemes in large-scale genetic studies. In this context, a new method has been developed in order to better stratify AIS patients using their blood cells, allowing their classification into one of three functional subgroups. This classification allowed scientists to identify fifteen candidate genes, which will be re-sequenced in hundreds of patients from three distinct cohorts (Canadian, Italian, and Chinese). Targeted re-sequencing can fill in the last pieces of the puzzle by allowing us to identify genetic variation that will lead us to the development of comprehensive diagnostic assays for scoliosis.

Co-applicants: