Our NTD Research

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. The condition involves an opening in the spinal cord or brain that can often be surgically closed at birth.

But 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 percent of NTDs 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. But 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 NTDs. 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.

A research team targeting NTDs at the John P. Hussman Institute for Human Genomics (HIHG) is being led by Dr. John Gilbert, Ph.D., a molecular geneticist, along with HIHG Director Dr. Margaret A. Pericak-Vance.