Researchers commonly utilize animal models to study diseases. Mice, for example, can be genetically altered and bred to provide researchers with a disease model with a specific set of conditions. However, these models have limitations and mouse models cannot mimic the vision loss experienced by patients with Usher syndrome and retinitis pigmentosa.

At the University College London, researchers studying Usher syndrome took a different approach and leveraged tissue samples to generate an in-vitro disease model called an organoid. Skin biopsies were collected from healthy patients and those with Usher syndrome and reprogrammed to develop into rod cells that retained the original disease state of the patient. These organoids could be manipulated and organized into layers that closely mimic the human retina, creating a “mini eye.”  
 

What this means for Usher syndrome: This organoid model of “mini eyes” will allow researchers to study rod cells at the single-cell level, which means a deeper understanding of molecular changes in the cells before they die. These insights may lead to future treatments that can delay, offset, or cure the progressive loss of vision.

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