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The name of the Egyptian researcher, Maha Zaki, has been given to a new genetic disease that affects children because she was the first to discover it.
Researchers at the Genomics Institute of the Science, Technology and Research Agency in Singapore and the Rady Children’s Institute of Genetic Medicine in San Diego, Calif., Had identified a previously unknown disease affecting children, then found that it could be prevented by giving medication during pregnancy, according to what has been uploaded to a special site for scientific research.
The discovery of an unknown genetic disease in children, and it was called Zaki syndrome after Dr. Maha Zaki, co-author of the study and treatment with the drug CHIR99021
This is a previously unknown genetic disease that affects the development of children’s organs before birth.#of Ghada Mustafa pic.twitter.com/Azc0RlV9L2– Dr. 🌻 journalist Dr. Ghada Mustafa 🥀🌺 (@ DrGhadaMustafa2) October 1, 2021
Through global collaboration, researchers have identified children from Egypt, India, the United Arab Emirates, Brazil and the United States of America with the same disease.
All of the children had similar symptoms and had DNA mutations in the same gene.
Doctors called this case “Zaki syndrome” after the Egyptian doctor, Maha Zaki, who was involved in the research and discovered the case.
Zeki syndrome affects the development of many parts of the body, including the eyes, brain, fingers, kidneys, hair, and heart.
Using whole genome sequencing, doctors were able to find mutations in a previously mysterious gene called WNT-less, abbreviated WLS.
This gene controls the signaling level of a hormone-like protein called WNT (pronounced win).
Describe a previously unknown genetic disease that affects children, @UCSanDiego & @radyenfants researchers say they have also found a potential method to prevent gene mutation by administering medication during pregnancy
New in @NEJMhttps://t.co/zmPD3EeTBN
– UC San Diego School of Medicine (@UCSDMedSchool) September 30, 2021
A drug that counteracts the loss of WLS was primarily able to restore normal development in both the preclinical trial model and the stem cell model of Zeki syndrome.
Researchers now hope to find out how to give the drug to pregnant women to help correct the disease in developing fetuses.
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