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Spina Bifida Research

  • Published: 2009-02-18 (Revised/Updated 2015-09-15) : Disabled World.
  • Synopsis: Research scientists are studying genetic risk factors for spina bifida including the function of folic acid during pregnancy possibly leading to spina bifida in the fetus

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Quote: "Because Spina Bifida manifests itself as a number of conditions, it is unlike any other disability. While some conditions are primarily associated with Spina Bifida, others are common to other kinds of disabilities. "

The National Institute of Neurological Disorders and Stroke (NINDS), supports and conducts research on brain and nervous system disorders, including spina bifida.

Despite the impact of Spina Bifida on individuals, families, society, and the nation, sadly, little research has been conducted on the many components of this complex birth defect. For some of the conditions associated with Spina Bifida, treatment options are limited. For others, they are practically nonexistent.

Because Spina Bifida manifests itself as a number of conditions, it is unlike any other disability. While some conditions are primarily associated with Spina Bifida, others are common to other kinds of disabilities.

Within the Federal Government, the National Institute of Neurological Disorders and Stroke (NINDS), a component of the National Institutes of Health (NIH), supports and conducts research on brain and nervous system disorders, including spina bifida.

NINDS conducts research in its laboratories at the NIH in Bethesda, Maryland, and supports research through grants to major medical institutions across the country.

In one study supported by NINDS, scientists are looking at the hereditary basis of neural tube defects. The goal of this research is to find the genetic factors that make some children more susceptible to neural tube defects than others. Lessons learned from this research will fill in gaps of knowledge about the causes of neural tube defects and may lead to ways to prevent these disorders. These researchers are also studying gene expression during the process of neural tube closure, which will provide information on the human nervous system during development.

In addition, NINDS supported scientists are working to identify, characterize, and evaluate genes for neural tube defects. The goal is to understand the genetics of neural tube closure, and to develop information that will translate into improved clinical care, treatment, and genetic counseling.

Other scientists are studying genetic risk factors for spina bifida, especially those that diminish or lessen the function of folic acid in the mother during pregnancy, possibly leading to spina bifida in the fetus. This study will shed light on how folic acid prevents spina bifida and may lead to improved forms of folate supplements.

NINDS also supports and conducts a wide range of basic research studies to understand how the brain and nervous system develop. These studies contribute to a greater understanding of neural tube defects, such as spina bifida, and offer hope for new avenues of treatment for and prevention of these disorders as well as other birth defects.

Another component of the NIH, the National Institute of Child Health and Human Development (NICHD), is conducting a large 5-year study to determine if fetal surgery to correct spina bifida in the womb is safer and more effective than the traditional surgery - which takes place a few days after birth. Researchers hope this study, called the Management of Myelomeningocele Study, or MOMS, will better establish which procedure, prenatal or postnatal, is best for the baby.

Researchers at McGill University have identified a gene that causes the debilitating developmental disorder spina bifida.

"We've known for years that there's a genetic component, and now we've discovered one of the culprits," said Dr. Philippe Gros, James McGill Professor of Biochemistry and Distinguished Scientist for the Canadian Institutes of Health Research (CIHR) at McGill.

"This discovery won't have a major impact on the search for a cure yet, but it can have an immediate impact on diagnosis or risk assessment," noted Dr. Gros

Related Information:

  1. Risk Factors for Spina Bifida - Disabled World - (2009-02-18)
  2. Report on Prenatal Surgeries for Spina Bifida - Children's Hospital of Philadelphia - (2014-08-26)
  3. Diagnosing Spina Bifida in Infants - Disabled World - (2009-02-18)


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