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I'd like to provide you with some more background because you are conflating this research with a different type of study and incorrectly interpreting its impac
by omidkarkouti 8y ago
I'd like to provide you with some more background because you are conflating this research with a different type of study and incorrectly interpreting its impact.
For background, I have inherited retinal disease in my family, am the founder of a gene therapy company that is working on genetic blindness, and have met John Flannery a few times.
This is not a simple 1) knockout gene in mouse, 2) put same gene back in study, like has been done many times before.
The model system here, the rd1 mouse, is not a "knockout mouse" per se. It is a strain of visually impaired lab mouse that was identified in the 1920s before knockout mouse technology was available. These mice have mutations in the PDE6B gene (due to a virus insertion) and the Gpr179 gene (which was identified much later).
Rd1 mice have severe early onset blindness caused by the death of cells that allow normal eyes to perceive light - photoreceptors. In these mice, the rod photoreceptors die first, then the cone photoreceptors follow, and this all happens pretty quickly.
In this study, researchers are introducing a different gene (green cone opsin) into second-order cells that do not normally perceive light (retinal ganglion cells or bipolar cells). This approach gives retinal ganglion cells/bipolar cells the new ability to perceive light. Importantly, these cells survive in patients that are blind because of photoreceptor death, so this approach can be generalized.
Scientists have been trying this for a while and there have been a number of limitations due to the performance of the introduced genes (opsins). There are clinical trials planned and ongoing in optogenetics, but those include things like light filters/amplifiers, and also often some form of implant.
It is not yet clear the quality / resolution of vision that people could regain. A very good outcome with the technology described would be providing monochrome vision of useful resolution to patients who currently cannot perceive light at all.
There are likely many subtleties I haven't considered or don't know about. Nevertheless, this is significant progress with an approach that is in theory applicable to very advanced cases of over 270 genetic diseases that cause blindness.
- dstick 8y agoThanks for this clarification! Fascinating stuff :)