No abstract

This cell-based assay can serve as a presymptomatic screening test to identify asymptomatic children at risk of developing IS and may be used to improve stratification of patients, which in turn allow clinicians to predict their clinical outcome. Moreover, this functional blood test is advantageous because it can be performed without prior knowledge of specifically mutated genes causing IS.

Adolescent idiopathic scoliosis (AIS) is one of the most common childhood deformities worldwide, characterized by a 3D spinal deformity with unknown cause, and represents both an immediate medical challenge and a chronic condition affecting individuals throughout their lives. The standard of care for scoliosis has not changed in any significant manner in decades. Patients today are treated in a substantially similar manner to those 20 or 30 years ago: observation, bracing and spinal surgery as last resort. Recent progress allow the identification of potential candidate genes, but the function of these still remains elusive and further efforts should be made to connect the predisposing genetic background to the physiopathology. To overcome that situation, we developed functional and biochemical assays that represent promising alternatives. They can help to understand the physiopathology of AIS and direct genetic studies, but more importantly they will contribute to an improved stratification of AIS patients, and thus lead to accurate personalized diagnoses, prognoses and treatment strategies.