Ok. This is really cool to me, so, I'm going to share it with you. Humor me. Enjoy it with me. I don't know. You can stop reading right now if you want. This is a brief introduction to how diseases are going to be treated in the future. Here I focus on the successes of a clinical trial aimed at developing a safe mechanism for gene therapy to reverse a form of genetic blindness.
For people not devoting large amounts of their life to studying science:
Consider this situation: A person is born with a defective gene important in the function of the eye, specifically the part that senses light. Overtime, they develop blindness because that gene simply is not working.
For the science lovers:
There is a genetic form of blindness called Leber's congenital amaurosis. It's a case of severe retinal dystrophy caused by missense mutation in the RPE65 gene. This leads to abnormalities in the photoreceptors and vision slowly deteriorates over time. (if you want more info, at the bottom of this post there's a link to the journal article that describes the therapy for the condition in detail)
Insert the correct gene into the eye so it will start working again. Easier said that done...
This is a very cutting edge area of medical research. Literally, what researchers are doing is inserting specific pieces of DNA (or genes) into people using viruses.
There was a study done in 2008 that was published in the New England Journal of Medicine where they successfully accomplished the insertion of the correct gene for this form of blindness and actually improved the vision of their patients.
Click on this link and then find the video on the right hand side of the webpage. The first part is the injection into the retina, the back part of the eye (don't worry, it's not bloody and gross, to most, you won't really see much of anything). But, the really cool part is at the end. They put the man before the therapy into a maze. Then, they put him in the maze 6 months after therapy. It's video 4. It'll take about 2 minutes of your time.
The cool part is that studies like this could lead to cures for so many diseases. So many diseases are caused by problems in our genes. Check it out:
-Multiple sclerosis (MS)
-Neurological complications of diabetes
-Retinitis pigmentosa (see the case above!)
-Inflammatory bowel disease (IBS)
-Cancer of all shapes and sizes
The list goes on. But, of course, tied to such exciting research are enormous budgets, ethics commitees, dangerous side effects, and scientific challeges. However, that doesn't make it any less incredible.
this is FASCINATING!ReplyDelete