BSRF Idiopathic Scoliosis Cohort Study

Researchers: Professor Jeremy Fairbank
Lead Institution: tbc
Duration: tbc

Genetic research is moving quickly, especially in the field of complex diseases such as scoliosis. It has proved difficult to use classic Mendelian thinking to understand this class of conditions. In reality, the genetic input is much more complex than originally conceived. At the same time the costs of doing DNA analyses is dropping dramatically.

The promise of understanding genetic basis of scoliosis is that

  1. prognostic factor(s) may be found that would predict likelihood of developing or progressing scoliosis
  2. finding genes will point to metabolic pathways and control systems that would be open to drug treatments
  3. there would be advances in our very limited knowledge of why most people's spine grows straight.

The failure of the scoliosis genetic community to progress this is partly the studies are too small. Competition and the hope of finding IP have not helped. I think it is unlikely that major incomes streams will be developed from this sort of IP. ISGIG (International Scoliosis Genetics Interest Group) has been set up to bring together investigators round the world to collaborate in scoliosis genetics. This occurred as a direct consequence of the Zorab meeting of April 2011. Carol Wise leads it.

The ALSPAC study in Bristol is a large cohort of the offspring of ~14k mothers who were born 1991 and 1992. The health and development of these children has been followed in great detail ever since. It is a lucky chance that children with scoliosis have been identifiable from scans intended for another purpose (bone density measurement). They were done at ages 9. 15 and 17, which means that the onset and development of curves can be followed. This is unique data. The investigators have confirmed for the first time that UK AIS children are more osteoporotic than their peers. This finding was originally reported in Hong Kong in a Chinese cohort. I would see this as a validation of this study. In my view there is much more to come from the basic work funded by BSRF.

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