Early Onset Scoliosis
Early onset scoliosis is a rare disorder that causes a sideways curvature of the spine in children under the age of ten. In some kids, early onset scoliosis can progress to become severe, disabling, and life-threatening, even with surgery. There is no known cure. There is a lack of genetics research in the world for early onset scoliosis. Genetics research assists scientists in finding the causes of disease. In order to conduct genetics research, scientists first need to collect biological samples (such as blood). These samples are stored in biobanks.
What are biobanks?
Biobanks collect, process and store biological samples (such as blood) from patients. These samples are stored in specialised freezers in universities and institutes, and allow scientists to conduct “basic” research (laboratory based research such as genetic research). The role of basic research in rare disease research is vital: without it, scientists cannot understand the cause of disease, or develop new pharmacological therapies. Our recent research found that when biobanks are linked to registries, they become invaluable resources for conducting genetics research with matched clinical data (Garcia et al, 2018).
What are registries?
Registries collect important clinical data from patients. This information is stored in a central database, allowing researchers to study many aspects of the disease. Registries can help us to better understand the disease, and measure the impact of interventions. The aim of a registry is to improve patient outcomes.
We are working with some of the world’s leading experts in early onset scoliosis to develop an international biobank network for early onset scoliosis. We are linking an existing registry and biobank together, making it possible to now collect and store blood samples with matched clinical data, enabling scientists to study the genetics of this disorder. In addition, the Nathan Project is creating an online virtual catalogue of available samples on our website, so that this resource is both visible and accessible to scientists throughout the world.