With each new day and technological improvements come new discoveries about the world around us. Some of those discoveries center around medical conditions which have never been seen before. According to Healio, scientists and doctors recently discovered a novel genetic disorder. Named after Dr. Maha S. Zaki, MD, PhD, from Cairo’s National Research Center, Zaki syndrome affects prenatal multi-organ development. Wnt-less (WLS) gene mutations cause this condition. To learn more about the process of discovery, take a look at the study findings published in The New England Journal of Medicine.
Discovering Zaki Syndrome
It’s no surprise that the Rady Children’s Institute for Genomic Medicine often explores various genetic conditions and potential treatments. At one point, a family came in that had five children touched by the same mysterious disorder. After researchers performed testing, they discovered that all the children had WLS gene mutations. In the past, the WLS gene had never been associated with any form of disease or disorder. Thus, researchers knew they wanted to explore it further. Additionally, after comparing notes, researchers realized that there might be multiple families or patients around the world touched by this seemingly novel condition.
To begin, researchers utilized a database containing information from 20,248 families whose children had neurodevelopmental disorders. Through this, researchers were able to find 10 separate cases of WLS gene mutations. These mutations caused alterations in organ development, including the kidneys, heart, and eyes. Additional symptoms included:
- Iris coloboma, which creates a “keyhole” appearance to the pupil
- Sudden, patchy hair loss
- Microcephaly (abnormally small head)
- Facial dysmorphism
- Defects in the heart
- Absence of one or both kidneys
- Toes which may be joined or “webbed” together
Next, researchers began evaluating potential therapeutic options for Zaki syndrome. For example, they created mice models of this disorder, as well as stem cell cultures. They then treated these models with CHIR99021, a Wnt-signaling booster. Through treatment, the mice models and stem cell cultures saw a restoration to normal growth and development.
Ultimately, much more research is needed – both on Zaki syndrome and potential treatment options. However, this does show promise for patients with rare or developmental disorders; with early identification and treatment, symptoms and progression could be reversed.
