Research Areas

Spina Bifida and Neural Tube Defects

Neural tube defects such as spina bifida and anencephaly are some of the most common structural malformations in humans with poorly understood environmental and genetic causes. Folic acid supplementation around the time of conception can prevent up to 70% of neural tube defects, yet additional strategies are needed to further reduce their incidence. Irene Zohn, Ph.D., with funding from the National Institutes of Health, the March of Dimes and the Spina Bifida Foundation, studies pathways regulating abnormal development leading to neural tube defects in mouse models. From these studies, new strategies are emerging to prevent these devastating birth defects.

Other studies in Dr. Zohn’s lab demonstrate that iron, in addition to folic acid, is an important nutrient to prevent neural tube defects. Iron deficiency is one of the most common nutritional deficiencies among women of childbearing age and has not been previously implicated as contributing to neural tube defect incidence. The involvement of iron in human neural tube defects will be validated with epidemiological studies and clinical trials to determine if dual supplementation could further reduce the incidence of neural tube defects worldwide.

Interferon Regulatory Factor 6 Mutations Implicated in Neural Tube Defects, Including Spina Bifida

Youssef A. Kousa, MS, D.O., Ph.D., a clinical fellow in the Division of Child Neurology at Children's National, explains how mutations in interferon regulatory factor 6 (IRF6) that cause cleft lip and palate also are implicated in neural tube defects such as spina bifida.