New gene therapy approach may offer a new treatment for retinitis pigmentosa (RP)

A new paper published in Stem Cell Reports this week presents the latest findings from a study led by UCL IoO Professor Michael Cheetham and Trinity College Dublin Professor Jane Farrar. 

RP2 mutations cause a severe form of X-linked retinitis pigmentosa (XLRP). The mechanism of RP2-related retinal degeneration in humans is unclear. In this study, scientists show that 3D retinal organoids can be used to model photoreceptor degeneration and test potential therapies to prevent photoreceptor cell death. They discovered that the retina in a dish made from patients or by removing RP2 from some otherwise healthy stem cells would lose the light sensitive rod cells as they were being made. The death of rod cells is a hallmark of RP. 

Professor Cheetham, who took the lead in creating the mini retinas used to road-test the gene therapy, said:

“It is an important development that we can now reproduce so many elements of inherited disease using these mini-retinas. It makes it possible for us to study in detail why people go blind and try to find ways to prevent blindness. It’s exciting that the gene therapy seems to be so effective for this form of RP.

 Ciara Shortall, PhD Researcher at Trinity’s School of Genetics and Microbiology, said:

“For the last 30 years there has been a lot of buzz about gene therapies and their potential for treating a huge variety of debilitating diseases and disorders, but it is really only recently that science has overcome difficulties associated with such approaches and begun to bring potential therapies far closer.
In relative terms it is now fairly easy to replace troublesome genes with functioning versions using non-harmful viruses, which is what we have done here. And while we are still some time and a lot of work away from an approved therapy it is hugely exciting to have begun a journey that could one day provide an effective treatment to rescue eyesight.

Links 

• Research paper in Stem Cell Reports
• UCL News article 

Image

• RP2 infographic by Ciara Shortall, PhD Researcher at Trinity’s School of Genetics and Microbiology.