Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes

The researchers conducting this study aimed to develop a new animal model of Usher syndrome using pigs because pig eyes are more similar to human eyes compared with other small animal models like mice or fish. To mimic the human condition, they made a specific genetic change that is found in patients to the USH1C gene in pigs.

The USH1C pigs showed similar symptoms to humans with USH1C, including the loss of hearing, balance, and vision. They also found disruptions in the structure of the photoreceptors, which are the light-sensitive cells in the retina. Additionally, the researchers tested a  potential new gene therapy treatment in the eyes  of the USH1C pigs. which showed promise in restoring their vision. 

What this means for Usher syndrome: Overall, this study aimed to create a more accurate animal model for studying Usher syndrome to improve our knowledge of the disease course and  to test new treatments. Accurate animal models will allow researchers to understand more about Usher syndrome and test potential treatments in the future. 

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