In the future, it may be possible to edit a patient’s DNA in specific cells in their eyes to avoid blindness.
#Usher syndrome skin
The technology used to grow faithful models of disease from human skin cells can also be used for several other diseases - this is an area of expertise at the Zayed Centre for Research into Rare Disease in Children at UCL GOS ICH.Ĭontinuing this pioneering work, researchers hope to create ‘mini eyes’ from more patient samples, and use them to help identify treatments, for example by testing different drugs. The ‘mini eye’ model for eye diseases is not only useful for studying Usher syndrome, but could also help teams understand other inherited conditions in which there is the death of rod cells in the eye, such as forms of retinitis pigmentosa without deafness. Doctor Yeh Chwan Leong, Research Associate at UCL GOS ICH and first author on the study By using a small biopsy of skin, we now have the technology to reprogramme the cells into stem cells and then create lab-grown retina with the same DNA, and therefore same genetic conditions, as our patients. It’s difficult to study the inaccessible tiny nerve cells of the patient’s retina as they are so intricately connected and delicately positioned at the back of the eye. Reversing these could be the key to preventing how the disease progresses and worsens. They found that cells from people with Usher syndrome abnormally have genes turned on for stress responses and protein breakdown. The team also discovered that Müller cells, responsible for metabolic and structural support of the retina, are also involved in Usher syndrome. The ‘mini eyes’ are an important step forward in research, allowing the team to study light-sensing cells from the human eye in more detail than ever before.įor example, using powerful single cell RNA-sequencing, it is the first-time researchers have been able to view the tiny molecular changes in rod cells before they die.
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