Scientists make advance to understand the causes of spina bifida

The scientists of the Rady Children’s Institute for Genomic Medicine, and the Department of Neurosciences and Pediatrics at the University of California, San Diego, have made a significant advance to understand the causes of spina bifida, a severe birth defect that affects thousands of newborns every year. The new study, published this week in Nature, reveals critical ideas about how this condition develops and opens the door for future potential treatments.

The bifid spine, or meningomielocele, occurs when the spine and the spinal cord are not formed properly during early pregnancy. Often identified during prenatal ultrasound, the condition can lead to life disabilities of the lower extremities and bladder. The sequence of newborns is not used routinely in this condition because the causes remain unknown. Although researchers have long understood certain environmental risk factors, the new study provides a deeper look at the molecular mechanisms underlying the condition.

Our research identifies specific steps in embryogenesis that contribute to spine bifida. This is a great step forward to understand why this condition occurs and how we could prevent it one day. “

Dr. Joseph Gleeson, main author of the study and professor of Rady Children’s and UC San Diego

New ideas about the origins of Spina Bifida

The study made a bold statement, taking into account that the new DNA mutations, not present in the mother or father, contribute to the cause. Proof of this statement required that people with spina bifida and their parents are volunteers for the study. To achieve sufficient families for the study, the authors established the sequencing consortium of the Bifida spine, with the support of the National Institutes of Health (NIH). This allowed the aggregation of older and younger people around the world.

“The combination of DNA mutations revealed functional modules that contribute to the risk of diseases,” said Dr. Sangwoo Kim, author and co-senior professor at the Faculty of Medicine of the University of Yensei, Republic of Korea. The researchers found that almost a quarter of patients have such new mutations that they contribute to the risk of disease, and that these mutations affect how cells inside the embryo connect to each other. These findings challenge the above assumptions and show that many patients have only one gene that is probably the cause.

One of the most exciting aspects of the study is its potential impact on early diagnosis and intervention. “Our results that identify genetic risk factors can now be used to develop new detection tools to achieve a more precise and early diagnosis, and possibly predict the degree of disability,” said the first author Dr. Yoo-Jin Ha, affiliated with UC San Diego and Yonsei.

Hope for future treatments

Beyond improving the diagnosis, this research paves the way for possible treatments. The study suggests that new approaches to study causes that use stem cell models could be used to advance new interventions such as gene therapy, directed medications or nutritional interventions. While folic acid is established as an important risk factor, the results offer a promising way to further reduce gravity or even prevent spine completely in the future.

“This discovery brings us closer to be able to intervene before the condition develops,” said Dr. Gleeson. “Currently, fetal surgery to correct the condition after it begins has proven promising to reduce the severity of the disease. While more research is needed, our findings provide a new basis to explore possible prevention.”

Looking to the future

The research team plans to build on these findings by incorporating even more powerful DNA mutation detection methods, in collaboration with the Bifida spine sequencing consortium and the Spina Bifida Association. They have the hope that research continues to lead to medical advances that could significantly reduce the impact of spina bifida on families around the world.

This study was possible through the support of the NIH and Rady Children’s Institute for Genomic Institute, and involved collaboration with scientific experts and doctors in more than 30 institutions.