What's the Spina Bifida Genetics Research Project About? This study continues our research to identify genetic factors that influence spina bifida (myelomeningocele). In this phase of the project, we are analyzing the genes involved in how our body utilizes the vitamin folic acid. One potential outcome of this research could be a genetic test to identify women at-risk for spina bifida. Once developed, this genetic test could identify women who are at high risk based on their genetic profile. These women, identified as high-risk based on their genetics, would be counseled under the care of a physician to take a 4mg/day dose of folic acid – the same recommendation given to women at high-risk based on history (prior affected pregnancy or spina bifida). You can learn about the science underlying this study here.
What Are 'Controls' and Why Are They Important?
The Spina Bifida Genetics Research Project needs both mothers who have a child affected by spina bifida and mothers who do not have a child affected by a birth defect. In research projects, individuals who have the disease or condition are designated "cases" and those individuals without the disease or condition are designated "controls". For this study, mothers who have a child with spina bifida are the cases, and mothers who do not have a child affected by a birth defect will be the controls. Our research project will compare the genetic profiles of the cases to the genetic profiles of the controls. Statistical analysis is used to determine an association between specific genetic factors and the occurrence of spina bifida.
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