This Gene Therapy Might Finally Cure Blindness!

Many genetic diseases such as Leber congenital amaurosis can currently not be cured. Gene therapy, however might change that. In the past years, several gene therapies have shown promising results for curing genetic eye diseases. And a few weeks ago, gene therapy was combined with optogenetics to partially restore the sight of a blind patient.

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0:00-1:21 Intro
1:21-3:54 How Gene Defects Cause Eye Diseases
3:54-7:37 How Gene Therapy Can Cure Genetic Diseases
7:37-10:33 Gene Therapy & Optogenetics Partially Cures Eye Disease!


Genetic diseases are caused by mutations in at least one gene. In order to break out, many genetic diseases (but not all) require mutations in the same gene. Leber congenital amaurosis (LCA) is a genetic eye disease where rods and cone cells do not receive photoreceptors from the retinal pigment epithelium (a layer in the retina which nourished surrounding cells). In gene therapy, we try to give the patient an intact version of the mutated gene. To conduct gene therapy, we pack DNA into a vehicle. The vehicle is then injected and taken up by cells. In this manner, the cells receive the intact gene and the disease might be cured.
Gene therapy, however is complex and there are many issues we need to address. Gene therapy should be effective while also being safe. The effects of gene therapy should last for years while not damaging the genetic material of the patient. A few clinical trials have partially improved the sight of LCA patients using gene therapy. The leber congenital amaurosis patients had higher scores in several tests after receiving gene therapy (which led to the production of RPE65). These effects are still not very strong and highly variable.
Optogenetics is a method where we use light to activate neurons. We can give neurons a protein called ChrimsonR which activates the neuron after being exposed to certain light. By combining optogenetics with gene therapy, a study recently successfully improved sight of a genetic eye disease patient. As part of the optogenetics /gene therapy treatment, the patient received ChrimsonR. Then, special goggles scanned the environment and activated ChrimsonR leading to improvements in the eye sight of the patient. This is an indication that gene therapy and optogenetics might be feasible to cure genetic eye diseases.

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For your reading:
Sahel, José-Alain, et al. "Partial recovery of visual function in a blind patient after optogenetic therapy." Nature Medicine (2021): 1-7.
Chacon-Camacho, O. F., & Zenteno, J. C. (2015). Review and update on the molecular basis of Leber congenital amaurosis. World Journal of Clinical Cases: WJCC, 3(2), 112.
Le Meur, Guylène, et al. "Safety and long-term efficacy of AAV4 gene therapy in patients with RPE65 Leber congenital amaurosis." Molecular Therapy 26.1 (2018): 256-268.

About Clemens Steinek:
CLEMENS STEINEK is a PhD student/youtuber (LifeLabLearner) who is currently conducting stem cell research in Germany.