NICHD is one of several NIH institutes and other federal entities that support and conduct research on spina bifida. Spina bifida is a developmental malformation resulting from atypical or incomplete closure of the caudal end of the neural tube. NICHD conducts and supports research on spina bifida’s precursors and causes, detection, treatment, and impact on child motor and cognitive development.
Myelomeningocele is the most common severely disabling birth defect in North America. NICHD integrates extensive intramural and extramural programs to advance treatment for spina bifida, provides effective support and rehabilitation, and investigates possible avenues for prevention. NICHD’s research portfolio includes:
- Genetic determinants of spina bifida
- Prenatal diagnosis and repair
- Defining developmental effects of spina bifida
- Assessing interventions to support robust motor development, learning capacity, and social integration
Through its intramural and extramural organizational units, NICHD supports and conducts a broad range of research on spina bifida.
Institute Activities and Advances
NICHD-supported scientists are investigating genetic, neurological, and environmental variables that influence neurobehavioral outcomes for children with spina bifida; assessing spina bifida's effects on physical and cognitive development in early childhood; developing new diagnostic ultrasound techniques; and studying the advantages of in utero (in the uterus) spinal cord repair for infants with spina bifida.
The Pregnancy and Perinatology Branch (PPB) supports research into the detection and treatment of spina bifida. Most prominently, PPB–supported researchers have validated positive outcomes from in utero surgery to repair the most severe cases of spina bifida, myelomeningocele. She below for details. In addition, studies to develop new techniques for diagnosing spina bifida before birth are carried out with PPB support.
The Intellectual and Developmental Disabilities Branch supports an extensive body of research evaluating the cognitive, motor, and social development of people with spina bifida. These studies examine development across infancy, childhood, and adolescence. NICHD-supported scientists also evaluate specific interventions to stimulate motor skills, such as walking in infancy and the toddler years; examine the long-term effects of spina bifida on the ability to learn; and assess the impact of spina bifida on forming and maintaining relationships in early adolescence.
These programs are complemented by a focus on genetic risk, patterns of embryonic development, and prenatal nutritional status in other areas of the institute. For instance, the intramural Program in Genomics of Differentiation uses zebrafish to investigate patterns of genes in embryonic development.
Human genetics is the focus of research supported by the Developmental Biology and Congenital Anomalies Branch (DBCAB). Researchers supported by DBCAB investigate the specific genetic activity that drives the development and growth of the fetus in typical conditions and when the neural tube fails to form completely.
Through its Division of Population Health Research (DiPHR), NICHD also conducts research to understand how nutritional and other interventions might prevent neural tube defects such as spina bifida. For example, with institutions in Ireland, where neural tube defects are relatively common, researchers are collaborating to identify risk factors for spina bifida, such as having low levels of vitamin B during pregnancy.
Other Activities and Advances
To achieve its goals for spina bifida research, NICHD conducts and supports a variety of activities. Some of these activities are managed through the previously listed components, while others are part of NIH-wide or collaborative efforts in which NICHD participates. The following are some examples:
- The Birth Defects Research Group, led by the Epidemiology Branch within DiPHR, is a multicenter, multidisciplinary group of collaborating scientists that investigates the etiology of birth defects, particularly neural tube defects. Collaborating institutions include NICHD; the National Human Genome Research Institute; the Health Research Board of Ireland; and the Department of Biochemistry, Trinity College, Dublin.
- The DBCAB-supported Birth Defects Initiative represents a concerted effort to support research on birth defects, including neural tube defects such as spina bifida. The initiative is co-funded by other NIH institutes and includes P01, R01, and K projects.