Zaki Syndrome: Scientists Discover Unknown Childhood Genetic Condition and Its Potential Cure

Mouse Model Zaki Syndrome

Images depict effects of Zaki syndrome and treatment with drug CHIR99021. At left, a normal mouse skeleton with legs and tail. At center, a mouse carrying the gene mutation with tail missing. At right, mouse with mutation treated with drug, displaying re-grown tail. Credit: Joseph Gleeson, UC San Diego

Findings point to the possibility of treating and preventing birth defects before birth.

Describing a previously unknown genetic condition that affects children, researchers at University of California San Diego School of Medicine and Rady Children’s Institute for Genomic Medicine say they also found a potential method to prevent the gene mutation by administering a drug during pregnancy. 

The findings will publish in the September 30, 2021 issue of The New England Journal of Medicine.

The work involved researchers in Egypt, India, the United Arab Emirates, Brazil, and the United States. “Although different doctors were caring for these children, all of the children showed the same symptoms and all had Click Here

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