![]() ![]() Understanding these differences could provide clues to changes that happen in the eye before a child’s vision begins to deteriorate and clues as to the best targets for early treatment. The ‘mini eyes’ are grown from cells donated by patients both with and without the genetic “fault” that causes Usher syndrome, allowing the team to compare the healthy cells with those that will lead to blindness. ![]() Reversing this could be key to preventing how the disease progresses and worsens. And that these cells have genes which abnormally turn of for stress responses and protein breakdown, in people with Usher syndrome. The ‘mini eyes’ have also helped the team to discover that Muller cells, responsible for metabolic and structural support of the retina, are also involved in Usher syndrome. The ‘mini eyes’ developed in this research allow scientists to study light-sensing cells from the human eye at an individual level, and 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. “By using a small biopsy of skin, we know 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.” While the researcher is in early stages, researchers hope these steps towards understanding the condition and how to design a treatment could give hope to those who could otherwise lose their sight.įirst author, Dr Yeh Chwan Leong (UCL Great Ormond Street Institute of Child Health), said: “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. Children with Type 1 Usher syndrome are often born profoundly deaf, while their sight slowly deteriorates until they are blind by adulthood.Īlthough cochlear implants can help with hearing loss, there are currently no treatments for retinitis pigmentosa, which causes vision loss in Usher syndrome. Usher syndrome is the most common genetic cause of combined deafness and blindness, affecting approximately three to ten in 100,000 people worldwide. This could be an important step forward, as previous research using animal cells was unable to mimic the same sort of sight loss as that seen in Usher syndrome. ![]() The new research, published in Stem Cell Reports, found that it is possible to get rod cells to organise themselves into layers that mimic their organisation in the retina – producing a ‘mini eye’. In a healthy eye, rod cells – the cells that detect light – are arranged in the back of the eye in an important region responsible for processing images called the retina. The 3D ‘mini eyes’, known as organoids, were grown from stem cells generated from skin samples donated by patients at Great Ormond Street Hospital for Children (GOSH). Researchers at UCL have grown ‘mini eyes’, which make it possible to study and better understand the development of blindness in Usher syndrome for the first time. ![]()
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