According to a story from Newswise, a collaborative research team from the University of California San Diego School of Medicine and the Rady Children’s Institute for Genomic Medicine will be researching spina bifida, a rare birth defect. This research will be under way thanks to a five year grant valued at $8.3 million. This grant was awarded by Eunice Kennedy Shriver National Institute of Child Health and Human Development, part of the National Institutes of Health. The primary goal of this research will be to gain a greater understanding of the cause of spina bifida, which remains poorly understood.
About Spina Bifida
Spina bifida is a birth defect in which the back bone does not fully close around the spinal cord. The area most typically affected is the lower back, but it can also appear along the mid back or neck. There are several different types which vary in their severity. The defect has been linked to a combination of environmental and genetic factors. Some risk factors include family history, folic acid deficiency during the pregnancy, diabetes, obesity, using anti-seizure medication, white or Hispanic descent, and alcohol consumption. Girls are more susceptible than boys. Symptoms range widely in severity but can include poor walking or inability to walk, abnormal eye movement, leg weakness or paralysis, club foot, scoliosis, skin conditions, poor kidney function, and incontinence. Some patients may have neurological abnormalities or learning disabilities. Treatment typically involves surgery. To learn more about spina bifida, click here.
Gaining Understanding
Supplementation with vitamin B9, or folic acid, during pregnancy can cut the risk of the condition in half. Despite the fact that folic acid is frequently added to grains in the US and other regions, spina bifida cases continue to appear. Scientists don’t know why it reduces risk, and there still is no true cure. The funds will be used with two primary goals in mind:
- Set up an international patient registry for spina bifida.
- Conduct research to understand why folic acid can reduce the risk.
The researchers intend to apply the whole genome sequencing technique in order to identify potential genetic causes and gain a better understanding of the disease mechanism.
