Neural tube defects (NTD)Neural tube defects (NTD) are among the most common birth defects and affect approximately 1-2 infants per 1,000 births in the United States. An NTD is an opening in the spinal cord or brain that can often be surgically closed at birth. However, patients with NTD often have permanent nerve damage and disability. An NTD can develop before a woman may even know she is pregnant, and in women from all racial, ethnic, and social groups. Research has shown that 50-70% of NTD can be prevented when women supplement their diet with folic acid, a water-soluble B-Vitamin. For that reason, most research has focused on genes in the folate-metabolism pathway. However, we still understand very little about which genes are involved and how they function. Researchers also believe that genes in other pathways may play equally important roles. HIHG researchers are searching for these genes and trying to understand how the environment contributes to development of NTD. We hope that our research will allow us to better understand the genetic and environmental causes of NTD, which will eventually lead to more accurate genetic counseling and risk assessment, improved treatments, better prevention methods, and hopefully a cure. The NTD research team at the Hussman Institute for Human Genomics (HIHG) is led by Evadnie Rampersaud, Ph.D., a genetic epidemiologist, and John Gilbert, Ph.D., a molecular geneticist, along with Margaret A. Pericak-Vance, Ph.D., Director of the HIHG. We are currently recruiting individuals and their families to participate in a study examining the genetic and environmental causes of NTD. Participants in the study are asked to: read and sign a consent form, answer questions about family, medical and environmental history, provide demographic information and a blood sample. Participants are also asked to update this information each year. Travel to the University of Miami Miller School of Medicine is not required. There is no cost or payment for participation. Contact Information View our NTD brochure Related Links: Spina Bifida Association Centers for Disease Control National Center on Birth Defects and Developmental Disabilities |