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?
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..
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?
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.
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!
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
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.
@@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.
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.
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.
