Researchers at UC San Diego School of Medicine, in collaboration with Rady Children's Institute for Genomic Medicine, were awarded a five-year, $8.3 million grant Thursday from the National Institutes of Health to study spina bifida.
The NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development granted the funds to illuminate the causes of spina bifida, the most common structural defect of the central nervous system.
Spina bifida occurs when the developing spine and spinal cord do not form properly. It's a defect of the neural tube, the structure in developing embryos that eventually becomes the baby's brain, spinal cord and surrounding tissues.
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In spina bifida, a portion of the neural tube does not close, and the backbone protecting the spinal cord does not form correctly, often resulting in damage to the cord and nerves, leading to physical and neurological disabilities, including paralysis from the waist down and hydrocephalus — excessive fluid buildup inside the brain.
The condition is relatively rare, occurring in approximately 1 in 3,000 births worldwide. Treatment depends upon the severity of the condition, often involving surgeries before and after birth.
The exact cause of spina bifida is unknown, the researchers said. It likely involves multiple factors: genetic, nutritional and environmental. Previous research has established that folic acid, known as vitamin B9, can halve the risk of spina bifida when taken by women prior to conception. As a result, folic acid is a common nutritional supplement in grain-based foods in the United States and other countries.
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"And yet spina bifida persists," said Dr. Joseph Gleeson, Rady professor of neuroscience at UCSD School of Medicine and director of neuroscience research at the Rady Children's Institute for Genomic Medicine. "We know B9 reduces risk, but the 'how' remains a mystery and the disease remains incurable."
The grant will be used by Gleeson and colleagues to set up an international registry of patients with spina bifida and fund new studies investigating how B9 reduces disease risk. In cooperation with the Spina Bifida Association, Shriner's Children's Hospitals and spina bifida clinics throughout the world, UCSD and Rady physicians and scientists will apply whole-genome sequencing to identify potential causes and underlying mechanisms of the disease.
Whole-genome sequencing is a process of determining the complete DNA sequence of a patient's genome or genetic material at a single time. It can be used to identify subtle differences in a similar group or guide the development of personalized therapies based on genetic information.
