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My science class is doing reports on genetic diseases, and I was assigned to research spina bifida. Is there a lot of scientific research going on? Thanks!
Answer 1:

This is a very important question and a lot of people wish we knew the answer.

Spina bifida is not necessarily a genetic disease, even though it is something that some people are born with. You don't "catch" it, like you catch a cold, but it may not be in your genes.

Forming a new human from a fertilized egg is a complicated process. The directions for making the person are their genes. Genes are like blueprints for buildings or recipes for food. Even if a blueprint or recipe is fine, things can go wrong during building or cooking.

In the case of spina bifida, the problem may be that the genes are fine, but the spinal cord and/or spine still does not form perfectly. Spina bifida is much less likely to happen when a pregnant woman is taking plenty of a nutrient called folic acid. This means that something besides genes must be important.

Spina bifida may be more common in some families, but I don't think that anyone knows for sure that it is genetic. Maybe people in those families eat similar foods, take certain medications for diseases that are genetic, or do other things that may increase the risk of having a child with spina bifida. Since no one is sure of the cause, it is difficult to say. Are genes part of the cause? Maybe, but no one is sure.

A lot of research is being done, but it may take a long time to get better answers.


Answer 2:

Spina bifida means split or open spine.It is a genetic disease where during the first month of development in the womb, the babys spine does not close resulting in nerve damage. The abnormal spinal opening may be surgically repaired preventing the chance of ongoing infection; however, the nerve tissue that has been damaged cannot be replaced, resulting in paralysis of the lower body. Other symptoms are common as well, including learning disabilities caused from cerebro spinal fluid in the brain.There are many valuable websites that describe the spina bifida symptoms, prevention, and research of the disease. It seems that taking folic acidduring pregnancy has been shown to significantly decrease the percent chance of giving birth to a child with spina bifida. One source says that 95% of children with spina bifida have no family history of the disease which would suggest that genetics isn't a major factor in the chance of disease. Nevertheless, scientists in Australia have discovered a mutated gene in mice that causes spina bifida. It is thought that genetic inheritance accounts for the affected individuals whose mothers consumed normal to high levels of folic acid during pregnancy.A good start to your research would be to look at the Spina bifida association website:

spina bifida assoc.

Another worthwhile website is the following:

spina bifida

These websites explain the disease so it is easy to understand and they describesome clinical research studies going on. If you need some primary research articles (the very descriptive papers which describe the results from differentstudies) you can check the pub med website

pub med website

and look up keywords spina bifida and gene. You may have to go to the library to retrieve the actual articles if they are not online. Good luck! Very interesting topic!

Answer 3:

The best place that I know of to find this type of information is a search engine called Scirus (http://www.scirus.com/srsapp/). There are four boxes under the bar where you type in your search information. If you only want to search for articles published in scientific research journals, make sure that only the "Journal sources" box is checked, otherwise web sites with information on spina bifida will also show up. The information on web sites is not reviewed by scientific experts in the field, so the information can be, and often is, incorrect. Journal articles do have to be reviewed for accuracy, both by the journal editors and by 2-3 scientists in the field, so they are the most accurate sources of information. You probably will not be able to access the actual journal articles themselves, since you need a subscription to the journal to do so, but the journals often allow you to access summaries (or abstracts) of the articles by clicking on the article titles. If you have access to a university library nearby, most university libraries have on-line subscriptions to journals, so you can download the articles from their computers. I'm guessing most of the articles will be too technical for you to read, but you can guess what they are about from the title and the summary.

Doing my own search on Scirus, I found a wide variety of recent research topics on spina bifida:
- whether defects in the genes that control the folate-homocysteine metabolic pathway increase the risk of spina bifida and whether those genetic defects are in the fetus or in the mother
- the correlation between the genetic defect NAT1 C1095A and the risk of spina bifida, and whether certain behaviors by pregnant mothers can increase (smoking) or decrease (vitamin use) the risk of spina bifida for their children
- whether the genetic defects BHMT and BHMT2 (defects in the betaine-homocysteine methyltransferase genes) increase the risk for spina bifida and orofacial clefts
- whether spina bifida and cerebral palsy commonly occur together (i.e. are genetically linked)
- experiences of parents who received prenatal (before birth) diagnoses of spina bifida in their fetuses and decided to have their babies
- whether it is OK to try to "erradicate" spina bifida and other diseases which cause physical or mental diability
- specific compounds found in cerebrospinal fluid from patients with spina bifida
- declines in the frequency of children born with spina bifida from 1995-2002 by race/ethnicity
- the correlation between certain spinal injuries in car accidents and the occurance of spina bifida in adults
- the behavior and mental health of parents of children with spina bifida
- what life is like for children and adults with spina bifida (quality of life, ability to move, coping mechanisms, etc)
- incontinence (leaky bladders and bowels) in developing fetuses and adults with spina bifida and treatments for it
- which states provide the best care for people with spina bifida, rated by patients and their caregivers
- genetic disorders of the cerebellum and spinal chord (Chiari type II malformations) and their correlation with spina bifida- sex education, relationships and sexuality in adults with spina bifida

This is just a sample. There were over 7,000 articles that came up when I searched for "spina bifida" in Scirus.


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