The University of California San Diego School of Medicine UCSD), https://health.ucad.edu with the Rady Children’s Institute for Genomic Medicine, https://radygenomics.org have received a five year $8.3 million grant from NIH’s Eunice Kennedy Shriver NICHD Institute https://nichd.nih.gov.
The funding will be used to further research the causes of spina bifida, considered to be the most common structural defect in the central nervous system. Spina bifida occurs when the developing spine and spinal cord do not form properly.
The condition is relatively rare, occurring in approximately one in 3,000 births worldwide. Treatment depends upon the severity of the condition, often involving surgeries before and after birth
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 of a child. “Yet spina bifida persists”, said Joseph Gleeson, MD, 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 that B9 reduces risk, but how this is accomplished, remains a mystery and the disease is still incurable.
The new grant funding will be used to set up an international registry of patients with spina bifida and fund new studies to investigate 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 are going to apply whole genome sequencing to identify the potential causes and the underlying mechanisms of the disease.