Study Center
The Center for Birth Defects Research and Prevention seeks to reduce the prevalence of birth defects in Arkansas and the nation and to reduce the economic, social, and psychological impact of birth defects at a state and national level. To accomplish this goal, the Center conducts research on the etiology and prevention of birth defects through the successful completion of high-caliber epidemiologic studies. In addition, the Center established a Genomics Research Laboratory to use state-of-the-art genomics to identify genomic and epigenomic causes of birth defects. These resources will include high-throughput genotyping, mutation and polymorphism detection, physical mapping, sequencing and expression analysis. For more information about the Arkansas Center, please go to https://publichealth.uams.edu/departmentsandunits/centers/arkansas-center-for-excellence-in-birth-defects-research-and-prevention
Principal Investigators:
Dr. Hobbs was the Director of the Arkansas Center for Birth Defects Research and Prevention until 2017, and was the recipient of the Pamela D. Stephens Endowed Chair for Birth Defects Research and Chief of the Section of Birth Defects Research in the Department of Pediatrics in the College of Medicine at the University of Arkansas for Medical Sciences...Read More
Local Activities and Research:
- Genetic and Metabolic Determinants of Congenital Heart Defect Risk: Funded by the National Institute for Child Health and Human Development since 2000, this local study investigates nutritional, lifestyle, and metabolic factors that affect the fetal environment. Using maternal interviews and DNA collected from infants affected by congenital heart and neural tube defects and from their parents, a greater understanding of the underlying mechanisms causing these defects is being investigated.
- DNA Bank for Congenital Malformations: The DNA Bank provides a repository of biological samples for current and future “cutting-edge” research in human genomics.
- DNA Methylation: In order to further enhance the research into the causes of birth defects, the Arkansas Center received funding from the Arkansas Biosciences Institute to investigate epigenetic causes of congenital heart defects. DNA methylation is a key epigenomic phenomenon that may be altered during early pregnancy and embryonic development.
- Congenital Heart Defects and Maternal Smoking: Researchers at the Arkansas Center are investigating the association between congenital heart defects (CHDs) and maternal smoking and/or exposure to passive smoking. The long-range goal of their research is to combine an accurate history of exposure to tobacco with analysis of specific risk genes in the mother to create a risk profile for identifying mothers at risk of having children with CHDs.
- Craniofacial Malformations: Supported by funds from the CDC and National Foundation for Facial Reconstruction, a series of craniofacial studies led by Dr. Jim Robbins have addressed the health care use, quality of health care and health-related quality of life of children with orofacial clefts, craniosynostosis, and microtia.
- Down syndrome: The prevalence of Down syndrome in Arkansas is about 12 per 10,000 live births. The Arkansas Center was a participant in the National Down Syndrome Project, led by researchers at Emory University in Atlanta, Georgia. This National Institute for Child Health and Human Development-funded study recruited children affected by Down syndrome and their parents to complete a parental interview related to dietary, environmental, and other pregnancy exposures. Maternal interviews and DNA samples will aid in the understanding of the etiology of Down syndrome and health problems of affected children.
- Folic Acid Intake: A study of NBDPS participants published in the American Journal of Epidemiology, led by investigators at the Arkansas Center, found that folic acid fortification efforts may have reached an optimal level for preventing neural tube defects within the general population. Nevertheless, women are still encouraged to continue taking a daily folic acid supplement.
Partners:
Recent Publications:
Nembhard, W. N., Tang, X., Li, J., MacLeod, S. L., Levy, J., Schaefer, G. B., & Hobbs, C. A. (2018). A parent-of-origin analysis of paternal genetic variants and increased risk of conotruncal heart defects. Am J Med Genet A, 176(3), 609-617. doi:10.1002/ajmg.a.38611
Tang, X., Eberhart, J. K., Cleves, M. A., Li, J., Li, M., MacLeod, S., Hobbs, C. A. (2018). PDGFRA gene, maternal binge drinking and obstructive heart defects. Sci Rep, 8(1), 11083. doi:10.1038/s41598-018-29160-9
Nembhard, W. N., Tang, X., Hu, Z., MacLeod, S., Stowe, Z., & Webber, D. (2017). Maternal and infant genetic variants, maternal periconceptional use of selective serotonin reuptake inhibitors, and risk of congenital heart defects in offspring: population based study. Bmj, 356, j832. doi:10.1136/bmj.j832
Li, M., Li, J., He, Z., Lu, Q., Witte, J. S., Macleod, S. L., Cleves, M. A. (2016). Testing Allele Transmission of an SNP Set Using a Family-Based Generalized Genetic Random Field Method. Genet Epidemiol, 40(4), 341-351. doi:10.1002/gepi.21970
Li, M., Li, J., Wei, C., Lu, Q., Tang, X., Erickson, S. W., Hobbs, C. A. (2016). A Three-Way Interaction among Maternal and Fetal Variants Contributing to Congenital Heart Defects. Ann Hum Genet, 80(1), 20-31. doi:10.1111/ahg.12139
Chandler, A. L., Hobbs, C. A., Mosley, B. S., Berry, R. J., Canfield, M. A., Qi, Y. P., . . . Shaw, G. M. (2012). Neural tube defects and maternal intake of micronutrients related to one-carbon metabolism or antioxidant activity. Birth Defects Res A Clin Mol Teratol, 94(11), 864-874. doi:10.1002/bdra.23068
Correa, A., Gilboa, S. M., Botto, L. D., Moore, C. A., Hobbs, C. A., Cleves, M. A., . . . Reece, E. A. (2012). Lack of periconceptional vitamins or supplements that contain folic acid and diabetes mellitus-associated birth defects. Am J Obstet Gynecol, 206(3), 218.e211-213. doi:10.1016/j.ajog.2011.12.018
Cleves, M. A., Hobbs, C. A., Zhao, W., Krakowiak, P. A., & MacLeod, S. L. (2011). Association between selected folate pathway polymorphisms and nonsyndromic limb reduction defects: a case-parental analysis. Paediatr Perinat Epidemiol, 25(2), 124-134. doi:10.1111/j.1365-3016.2010.01160.x
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