for
Families, Children, Teens and Adults Who Are Living With The Challenges of
Congenital Anorectal, Colorectal or Urogenital Disorders
Center for Human Genetics
Duke University Health System
There are two types of NTDs. The most common type are called the open NTDs. Open NTDs occur when the brain and/or spinal cord are exposed at birth through a defect in the skull or vertebrae (back bones). Examples of open NTDs are spina bifida (myelomeningocele), anencephaly, and encephalocele. Rarer types of NTDs are called closed NTDs. Closed NTDs occur when the spinal defect is covered by skin. Common examples of closed NTDs are lipomyelomeningocele, lipomeningocele, and tethered cord.
Neural Tube Defects Research Review
NTDs are one of the most common birth defects, though their causes are not well understood. The formation of the neural tube during development is a complex process, and the goal of our project is to discover the genetic and environmental factors that contribute to NTDs. One major step in research is to gather data on a large number of families. Currently, the Center for Human Genetics (CHG) has enrolled more than 1200 families. We will need to enroll another 500-1000 families before some of the laboratory studies can be completed. We continue to collaborate with Myelodysplasia clinics around the country, presenting information at local and national Spina Bifida Association of America conferences, and speaking with families interested in the study.
In the laboratory, our goal is to find genes that cause or contribute to NTDs. There are two major strategies scientists are using:
* genome scan - systematically searching each chromosome, looking for areas which may harbor genes that cause or contribute to NTDs
* candidate gene analysis - studying genes of known function that could potentially be involved in neural tube development. Examples of candidate genes include the many genes involved in the folic acid metabolism pathway, genes known to cause NTDs in animals, and genes involved in chromosomal rearrangements in individuals who also have NTDs.
Neural Tube Defect Study Team
A project of this magnitude requires the efforts of many. These experienced CHG researchers-with the help of interested families-continue to search for genes that cause NTDs.
If your family is interested in learning more about this NTD research or in participating, please contact us toll free at (866) DUKE-NTD (866) 385-3683 or e-mail ntd@chg.duhs.duke.edu.
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