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.

[@Sciencerely]

What should I cover next? Let me know in the comment section!

[@pinetworkminer8377]

What's the current progress of the research? (i.e. Which stage? Pre-clinical or further animal studies?)

[@Lyndell239]

I have progressive Cone Rod Dystrophy. I can no longer drive and my vison I do have is incredibly bizarre. It's exhausting, takes your independence and depressing. DNA tests came back inconclusive. Can you do one on this?

[@pinetworkminer8377]

@@Lyndell239 If your vision is incredibly bizarre, then how are you able to type on this comments section?

[@Lyndell239]

@@pinetworkminer8377 There are many tools available too the blind today!

[@Lyndell239]

There are many blind people on KZbin I assure you!

[@serifpersia]

I'm 21 and I have a rare genetic disorder called Congenital Myasthenic Syndrome. My CHRNE gene is mutated and as a result I have non functional epislon part of the ACHr (receptor that picks up the signal from the brain to the muscle) I can't walk much couple of meters with medication ofc without it I can't even get up from my bed. I would love to see where gene therapy will go. Hopefully one day I will be able to do normal human things like walking running and so on..

[@dipikasharma4560]

Ammen

[@DogKacique]

Nice video, very informative

[@Biomeducated]

Support squad!

[@Sciencerely]

I feel supported!

[@germanovicente4616]

great video!

[@mkvenu7474]

Nice way and good results can be expected in the future 👍🙏

[@dionuyi8038]

Can gene therapy be used to replace loss vision due to glaucoma?

[@nesanesa9547]

SOS...I would appreciate to hear how stem cells can heal my wet macular degeneration in both eyes...currently treated with Eyelea however i do n,t think my right eye Will take much more due to scars left by injections...thank you n

[@jayaareati7882]

where was. this. hospital. say

[@GleamingSoul]

We need a basics video series.

[@UmeshGupta-zu7hj]

和

[@mkvenu7474]

Retinal bleeding below the retina... How to manage 😱

[@pamgreenwood7028]

If a person has RPE65 gene with Retina Pigmentosa, can he be treated

[@jackccrofootjr7228]

The most recent studies have proven this therapy in not effective in older patients because the Photoreceptors have already died off. Once a photoreceptor is dead it doe not regenerate like skin cells do. Supplying the corrected gene coding at that point will not revive a dead Photoreceptor. That is why they are now recommending Luxturna Treatment in 4 yr old children and some younger, before all the Rods and Cones have died off.

[@TheHyperrYT]

What if you purposely ruined your vision, would treatment like this still work? What if your vision is suppose to get bad at 16 but you ruin your vision purposely at 10, would treatment like this still work?

[@jackccrofootjr7228]

This man is a PhD. reseach student. HE IS NOT A MEDICAL PRACTITIONER even though his pretends to be. Do not ask medical advice of this poser. See your own Ophthalmologist for any questions.

[@siddhantrajput5625]

Sir, I am patient of Retinist Pigmentosa but it is not that major I only face some problem to see in night will it help me?

[@shahidgulzarganai0690]

What is your age

[@jackccrofootjr7228]

Unless you have DNA Testing to prove you have a mis-coded (wrong recipe) RPE65 gene. You are not eligible for this treatment!

[@jackccrofootjr7228]

@@lavanya7081 There are nearly 300 gene miscodings that can cause RP. Which means in is a group of diseases leading to the same end result. The New Name is Inherited Retinal Diseases to reflect the fact that they do not all have the same cause. Even members of the same family do not have the same rate of loss of vision. Most RP pts do not go completely blind they tend to retain a touch of vision, but many do only have light recognition or complete blindness in their later years.

[@crazykatedits]

Gene therapy cost? Could we. an average salried people afford it? I've heard somewhere that it's 1.4million dollars?

[@dsm7853]

some countries do reimburse such treatments. You should contact health agency or gene therapy research institutes of your country.

[@davidong9184]

Commenting for the algorithm

[@ajaymeena1559]

Can genetic disease pkd be cured by gene therepy 🤔plz answer

[@Sciencerely]

Hey! As far as I know, there have been no major clinical trials regarding curing PKD using gene therapy. However, scientists are currently developing possible therapies in the laboratory. The main questions here are how we get the needed DNA into the kidney and how we can ensure that it is safe and effective. So there are no clinical trials but scientists are trying to develop therapies. I hope that answers your question!

[@ajaymeena1559]

@@Sciencerely plz give one answer and is it possible to cure pkd from gene therepy and how long can this therepy come among everyone 🤔

[@modernmind5872]

But how do they get the little m's on the m&m's?

[@Sciencerely]

What if they are actually not m's but w's?

[@modernmind5872]

@@Sciencerely 😨

[@crazykatedits]

I have retinitis pigmentosa I'm completely night blind since birth but no one in my family have this disease. Why I got this issue then? My day vision is also affecting due to this and I see flashes floaters etc.

[@yamanrana7531]

Same for me as you mentioned . But i had night blindness around 13 years age may be . Please let us share about any information that can help us both.

[@yamanrana7531]

Actually I am from Nepal very close to India.

[@jackccrofootjr7228]

RP can be inherited by all the normal inheritance patterns. One particular pattern Autosomal Recessive requires a defective recessive gene from both Parents. These two gene carriers can go generations without accidently making a child that then expresses the gene with blindness. Many Parents can carry this gene for generations and not know they are carriers until they mate with another unknowing carrier.

[@ElenaElena-gj3wg]

Cat costa tratamentul?

[@jackccrofootjr7228]

About $1 Million USD.

[@sargun5619]

This gene therapy will cure retinal dystrophy (genetic)

[@sultanarazia9810]

Is it applicable for stargardt kids??

[@jackccrofootjr7228]

Absolutely NOT!

[@subhendubiswal2877]

@@jackccrofootjr7228 why ?

[@harishsukhriya2859]

hello... plz tell gene therapy can cure night blindness

[@alinawafali6228]

My LOL might be, this therapy is only for billionaires not for common human so what is good here ?

[@ghoulbuster1]

Eugenics, son!

[@asherikamichaela8425]

Um, no?

[@SamSam-ir7ux]

I could see your point if it was embryos however this is on the individual level.