What is the specific Retinitis Pigmentosa mutation that may be treatable soon? | Dr. Rajani Battu

There are about 200 mutations that cause retinitis pigmentosa. One of them that causes both LCA and RP is a mutation called RPE65. So there is an approved gene therapy for this specific condition. It has already been approved in the US and across many countries in Europe. It is on the verge of approval in India as well. It involves a surgical procedure and injecting this product called Luxturna under the retina. The challenge is that it is very expensive. In the US, it costs about $450,000 for a 0.03 ml of the injection. And it's at a similar cost in Europe. There is no information about price points in India until the launch happens Clinical trials for other mutations for gene therapies are underway, but there is no other approved gene therapy as of now. The second treatment being investigated is stem cell therapy where the effort is to replace the damaged cells - the retinal pigment epithelium and then the rods and cones. At this time, there is no approved stem cell therapy for retina degeneration or any genetic disease of the eye anywhere in the world. Read More: https://chetindia.org/retinitis-pigme... #retinitispigmentosa #rarediseases #rarediseaseday #raredisease #rarediseaseresearch #rarediseaseawareness #geneticdisorders #geneticcounseling #geneticinheritance #dna #genetictesting #geneticmaterial #geneticfactors #supportgroups #supportgroup