Spina Bifida Genetics Research Project is a collaboration between scientists at Children’s Hospital Oakland Research Institute (CHORI), Stanford University, UC Berkeley, UC San Francisco and VitaPath Genetics.
Early in 2012 we completed analysis of the first phase of the Spina Bifida Genetics Research Project (SBGRP-1). We looked at the genetic factors contributing to spina bifida in over 1,000 women and their children with spina bifida.
We looked at 824 genetic variants in 37 folate related genes. We found 58 genetic variants that appear to be linked with spina bifida in mothers and their children with spina bifida. The results indicated that the genetic variants were related to the folate pathway in our body. From these results we developed a method based on these genetic variants to estimate a woman’s risk of having a pregnancy affected by spina bifida.
The results from SBGRP-1 indicate that we can identify a subset of women, based on the genetic variants, who are unlikely to be adequately protected by the standard dose of folic acid (0.4mg), and who may benefit from a higher dose under the care of a physician. It’s important to note that nothing in the results suggests that any woman has a reduced risk, and does not need to begin folic acid supplementation prior to conception.
As with all complex genetic studies, our results need to be replicated in a second (new) group of women and their children with spina bifida. We obtained the approval of the Institutional Review Board at CHORI and began phase two of the SBGRP (SBGRP-2) in February 2012. By October of 2012 over 1,800 mothers and their SB affected child had participated in the study. Recruitment for the study is now closed. We are now in the genetic analysis phase. We will keep you updated on the status of the study via Twitter and Facebook . We will email all the participants when we publish results.