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A group of researchers at the University of California San Diego School of Medicine led an investigation that offers new insight into the causes of spina bifida, the most common structural disorder of the human nervous system. Work of the group, led by Keng Ioi Vong, Ph.D.
, and Sangmoon Lee, M.D. Ph.
D., both from the laboratory of Joseph G. Gleeson, M.
D., at the UC San Diego School of Medicine Department of Neurosciences and the Rady Children's Institute for Genomic Medicine, reveals the first link between spina bifida and a common chromosomal microdeletion in humans. The study demonstrates that individuals carrying this chromosomal deletion -;present in one of 2,500 live births -; demonstrate a risk of spina bifida more than 10 times greater than the general public.
The study also underscores the potential role of a common food supplement in reducing the risk of spina bifida. The findings were recently published in the journal Science . Gleeson, Rady Professor in the Department of Neuroscience and director of neuroscience at Rady Children's Institute for Genomic Medicine, is the senior author of the study.
He explained that spina bifida, also known as meningomyelocele, affects one in every 3,000 newborns. Unfortunately, the causes are mostly unknown. A few mutations were reported but could only explain a tiny fraction of risk, Gleeson added.
To uncover the genetic causes of the disease, Gleeson's UC San Diego lab joined with colleagues from across the globe to establish the .
