New blindness disorder and maybe its cure...

Gene therapy is a fast growing area of research in modern science, and this article definitely shows how useful this technique is. The main study that these scientists were doing was upon the rare disorder that causes blindness during the day called achromatopsia. It seems that the scientists were able to narrow the culprit down to genes that play a key role in phototransduction. First off, this study is being done to help lead to a cure for both dogs and humans. During their study so far, they have only performed experiments on dog genes in gene therapy. What they were able to find was that there is a missense mutation on the CNGA3 gene. What's crazy is how this one mutation causes a different amino acid to be produced which leads to this disorder. The best part about this gene therapy is that they were able to recreate this in vitro and see what this mutation and the other newly discovered mutation can do to the pathway of the phototransducers within the eyes. They will begin study upon humans soon but so far they have discovered many more mutations that are present within the same gene rather than the few that are present within dogs that lead to achromatopsia. I can't wait to hear if their research takes off soon, leading them to be able to find a way to fix this gene in vivo and repair people and dogs' vision that are crippled by this rare disorder.

Here is the article:
http://www.sciencedaily.com/releases/2015/10/151001165029.htm

University of Pennsylvania. "Genetic mutations linked to a form of blindness." ScienceDaily. ScienceDaily, 1 October 2015. <www.sciencedaily.com/releases/2015/10/151001165029.htm>.