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New discovery in rare condition thanks to Shelby County woman

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Research on local woman allows discovery of cause of rare form of dwarfism

By Glen Jennings

Monica Zaring has spent her life without answers, but the Shelby County resident could be the reason others finally get some.

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Zaring has a rare form of dwarfism called Saul Wilson Syndrome, and thanks to her help, researchers have managed to identify the specific gene that causes Saul Wilson Syndrome.

“I’m thirty years old, and growing up I never had any answers,” Zaring said. “For them to find the gene, now they can hopefully get a lot more answers for the younger kids that they have found.”

And it was all thanks to Zaring’s own cooperation that the discovery was made. Her participation in the study involved both extensive medical testing and close examination of the blog that she wrote to get a sense of her personal history.

“I’ve had eighteen surgeries,” she said. “As I grew up, I faced many challenges medically. As every one of them came, I just had to find doctors that were willing to help me.”

As Hudson Freeze, PhD explained, Saul Wilson can cause lifelong medical difficulties.

“This is a rare form of dwarfism,” Freeze said. “The first cases were only defined in 1990 and now with this study, we brought the total to only fourteen cases known worldwide. Individuals with the syndrome have short stature, frequent cataracts, microcephaly (small head), hearing loss and early developmental delays, such as walking and talking.”

Freeze is the co-senior author of the paper presenting the research and the professor of the Human Genetics Program at Sanford Burnham Prebys Medical Discovery Institute. According to Freeze, the specific genetic alteration that causes Saul Wilson is related to the way proteins are delivered through cells.

Thanks to a change to a part of the cell called the Golgi complex, proteins that were delivered to the complex progressed to their destination slowly and rapidly returned to where they came from when they arrived.

“This is like a delivery truck that drives slowly to your home but then speeds back to the warehouse,” Freeze said.

To Zaring, this discovery has an enormous impact, finally helping her understand a condition she has lived with her whole life.

According to Freeze, the implications of the research are huge not only to people like Zaring, but could also go beyond Saul Wilson Syndrome.

“Now that gene sequencing is available and the cost of sequencing is lowering, we are learning of more conditions that are caused by ‘out of the blue’ de novo changes (meaning they don’t occur in the mother and father) including autism and epilepsy,” Freeze said. “Studying Saul Wilson Syndrome, which is found on one gene, and arises spontaneously, could help us understand more mysterious conditions, and to constantly being on the lookout for them.”

Zaring, meanwhile, is happy that the discovery will help others live a better life.

“This is my dream,” she said. “For me, this is a dream come true to be able to partake in this, and not only that, but be the spokesperson.”