“Zaki Syndrome”… Giving the name of an Egyptian doctor to a genetic condition that affects children

Researchers from the Genomics Institute of the Science, Technology and Research Agency in Singapore and the Rady Children’s Institute of Genomic Medicine, in San Diego, California, were able to identify a previously unknown condition affecting children, and then discovered that it could be prevented by giving a drug during pregnancy, according to a report. What was reported by a special site for scientific research.

And the Egyptian researcher, Maha Zaki, named a new genetic disease that affects children, as she was the first to discover it.

In the recent study, the researchers described a previously unknown genetic condition affecting children, and said they had also found a possible way to prevent this genetic mutation by giving medication during pregnancy.

The results were published in the September 30, 2021 issue of The New England Journal of Medicine, and the study was conducted by researchers from the University of California San Diego School of Medicine and the Rady Children’s Institute of Genetic Medicine. Researchers from Egypt, India, the United Arab Emirates, Brazil and the United States also participated in the work.

“Although these children were cared for by different physicians, all the children showed the same symptoms and they all had DNA mutations in their The same gene.

The research team named the case “Zaki Syndrome” after the co-author, Dr. Maha Zaki, from the National Research Center in Cairo, Egypt, who discovered the case for the first time.

Zeki syndrome affects the development of many organs in the body before birth, including the eyes, brain, hands, kidneys and heart. Because of it, children suffer lifelong disabilities. The case appears to be rare, but future studies are needed to determine the extent of the prevalence.

“Children with this condition have puzzled us for many years,” Gleason said. “We’ve observed children around the world with DNA mutations in the Wnt-less (WLS) gene, but we didn’t realize they all had the same disease until doctors compared clinical observations, and we realized that we We are dealing with a new syndrome that can be recognized by clinicians and potentially preventable.”

Co-author Bruno Riverside, director of research at the Agency for Science, Technology and Research (A*STAR) in Singapore, helped identify several families with members with Zicky syndrome and investigate a potential therapeutic intervention.

“While we have shown that it is possible to simulate WNT gene deficiency with customized drugs, the real challenge has been to overcome, and possibly save, children from this congenital disease,” Reversad said.

“The results were very surprising because it was assumed that skeletal birth defects such as Zeki syndrome do not It can be prevented with medication. We could see this drug, or drugs like it, eventually being used to prevent birth defects, if children can be diagnosed early enough.”

 
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