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The National Institutes of Health (NIH) has awarded a five-year, $5.5 million Transformative Research Project Award to fund research into risk factors for Spina Bifida and related congenital defects in which an area of the affected baby's spine or brain is not fully enclosed.

The study seeks to identify which among all the genes in the cell are modified by folic acid levels, and how those patterns can be used to assess individual risk for having a child with Spina Bifida, or other serious NTDs.

The research will be led by Dr. Margaret Elizabeth Ross and Dr. Christopher E. Mason at Weill Cornell Medical College. Dr. Ross is the director of the Laboratory of Neurogenetics and Development and professor and vice chair for research in the Department of Neurology and Neuroscience, and Dr. Mason is an assistant professor of computational genomics in the Department of Physiology and Biophysics and at the HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine. They will work in collaboration with Dr. Richard H. Finnell of the University of Texas at Austin.

The award to Dr. Ross and Dr. Mason is among 79 awards totaling $143.8 million that were recently announced by the NIH. It is also one of only 17 given in the transformative research category in 2011. According to the NIH: "The Common Fund's NIH Director's Transformative Research Award initiative) is created specifically to support exceptionally innovative and/or unconventional research projects that have the potential to create or overturn fundamental paradigms."

Spina Bifida and other serious neural tube defects (NTDs) develop from a complex interaction between genetic and environmental factors in which the environment influences how the fetus' genetic blueprint is read during development. One critical influence is the addition of methyl groups to DNA that can make it less likely that the modified, methylated gene will be used to make the protein it encodes. The study will compare DNA from patients with NTDs with DNA from patients without NTDs with the ultimate goal of developing more individually targeted and more effective prevention strategies.

The Centers for Disease Control and Prevention (CDC), along with the Spina Bifida Association, recommends that all women capable of becoming pregnant should consume folic acid to reduce their risk for having a pregnancy affected by Spina Bifida and other NTDs. Folic acid is in most multivitamins and many foods, including vegetables like broccoli and spinach, and fruits and juices such as orange juice. Some foods also have folic acid added to them, like certain breakfast cereals and other bread and grain products.