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Maternal supplementation with the B vitamin, folic acid, is widely believed to reduce the incidence of selected birth defects including spina bifida, cleft lip and palate, and conotruncal heart defects, when taken around and after the time of conception. A new publication from Dr. Richard Finnell's lab¹ demonstrates that folic acid can indeed rescue heart defects in embryos lacking the folate-binding protein gene (Folr1) in a dose dependent manner. Maternal genotype also significantly affected this outcome, potentially indicating a role for in utero folate status during development. Folic acid appears to mediate these effects by altering the expression of critical genes in neural crest cell populations. In several other papers recently, Dr. Finnell 's lab and collaborators have described results in human molecular epidemiological studies examining gene variants as risk factors for spina bifida and other birth defects^{2, 3}.

In addition to his research, Dr. Finnell also is director of the Texas Institute for Genomic Medicine (TIGM), a non-profit organization with the goal of creating an ES cell library containing knockout or gene-trap mutations in approximately 70% of the mouse genome on a C57Bl/6N background. In collaboration with Lexicon Pharmaceuticals, Inc. (formerly Lexicon Genetics, Inc.), TIGM also has access to over 1,000 knockout mouse lines and a second library with mutations in ~60% of the mouse genome in a 129/SvEvBrd background. Please visit our link to their website, www.tigm.org to see if your gene of interest is available.

1. Zhu, H., Wlodarczyk, B.J., Scott, M., Yu, W., Merriweather, M., Gelineau-van Waes, J., Schwartz, R.J. and Finnell, R.H. Cardiovascular abnormalities in Folr1 knockout mice and folate rescue. Birth Defects Res A Clin Mol Teratol., Apr; 79(4):257-268 (2007).
2. Lu.W., Zhu, H., Wen, S., Laurent, C., Shaw, G.M., Lammer, E.J. and Finnell, R.H. Screening for novel PAX3 polymorphisms and risks of spina bifida. Birth Defects Res A Clin Mol Teratol., Jan; 79(1):45-49 (2007).
3. Zhu, H., Enaw, J.O., Ma, C., Shaw, G.M., Lammer, E.J. and Finnell, R.H. Association between CFL1 gene polymorphisms and spina bifida risk in a California population. BMC Med Genet. Mar; 8:12 (2007).
4. Rosenquist, T.H., Bennett, G.D., Brauer, P.R., Stewart, M.L., Chaudion, T.R. and Finnell, R.H. 2007. Microarray analysis of homocysteine-responsive genes in cardiac neural crest cells in vitro. Devel. Dyn. 236(4):1044-1054.