Medical experts have developed a laboratory model of a rare and severe genetic eye disease, Leber Congenital Amaurosis, using stem cells, which may help in treating blindness in children.
Dr. To Ha Lui and her team at the Children’s Medical Research Institute in Australia focused on a gene called RPGRIP1 in their latest research. This gene is essential for the development and survival of photoreceptors, the light sensing cells in the eye.
They stated that when this gene is defective, a child’s vision becomes severely affected. Experts have now created a model with the help of stem cells to better understand and treat such diseases. RPGRIP1 has different variants with many mutations, which makes it difficult to determine whether they are actually harmful, complicating diagnosis and treatment.
Medical experts have produced 3D retinal organoids from stem cells in the laboratory, which have the ability to mimic the structure of the human retina. These miniature samples help scientists understand how RPGRIP1 defects lead to eye disease.
This research marks the first time that human retinal models have been created using both patient derived stem cells and genetically modified cells.
Scientists have expressed hope that gene therapy may become a possible solution in the future to restore vision in affected children, even if their eyes were damaged at a very early age.
