medicine & health
Hope for a Cure: A Gene Therapy Approach for Pitt-Hopkins Syndrome
By Yue Yan
Image by Marta D. [CC-BY-4.0]
F
ror most people, reciting the ABC’s and 123’s is a very simple task. For most people, their faces are just an average of their parents’ faces and nothing more. However, many men, women, and children in the world find learning even the simplest of concepts to be a challenge. For many men, women, and children, their entire lives were changed the moment they were born. These individuals all have one thing in common: Pitt-Hopkins Syndrome, a form of autism that causes breathing problems, epilepsy, developmental/intellectual delays, and facial deformities. It can lead to social isolation and, in extreme cases, can even be fatal. Consequently, many researchers around the world are trying to understand this condition better to possibly treat or even cure it. One such researcher is Sally Kim. Sally Kim is a Ph.D. student working in Dr. Ben Philpot’s lab at UNCChapel Hill. Under Dr. Philpot, her study focuses on developing a gene therapy approach for Pitt-Hopkins Syndrome. Pitt-Hopkins Syndrome is an extremely rare but Sally Kim, Ph.D student very serious genetic and
neurodevelopmental disorder. It is caused by a mutation in the chromosome 18 gene Tcf4, which creates a protein when expressed. Symptoms of this disorder include epilepsy, trouble breathing, developmental delay, digestive issues, impaired speech, and distinctive facial features (Figure 1). Since Pitt-Hopkins Syndrome is rare, it is not well-understood, so researchers like Sally Kim are working hard to better understand it.
Figure 1. A photo of the facial features caused by PittHopkins Syndrome. Image courtesy of Wikimedia.
To start, the researchers first identified which cells expressed the protein. By doing so, they would be able to locate in which cells Pitt-Hopkins Syn-
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