Thursday, October 8, 2015

Mark Grove
October 8, 2015

This article is about different mutations that might cause blindness in certain animals.  Although many mutations affect organisms in different ways, this article talks about two new mutations that were discovered by scientists researching possible causes for blindness in dogs.  When different organizations or universities conducted studies, these mutations were found and later identified in human genes.  This article talks about which genes can cause blindness because of how they are involved in the seeing process.  For example, the CNGA3 gene plays a key part in converting visual signals into actual objects.  "Nearly 100 different mutations have been identified in the CNGA3 gene, including the very same one identified in the German shepherd in this study" (University of Pennsylvania).  When reading this article, I was shocked by the number of different mutations that could occur in a single gene, knowing that there are millions of different genes in every human body.  I think that scientists should definitely look into using gene therapy to find a cure for Achromatopsia.  I also think that scientists should do more tests on dogs and other animals with Achromatopsia so that their results will be more accurate.  MacDermaid, assistant professor of research at Temple's Institute for Computational Molecular Science, said that "The computational approach allows us to model, right down to the atomic level, how small changes in protein sequence can have a major impact on signaling."  He talks about advanced computers that are very useful in replicating gene mutations.  These machines can create digital models of microscopic changes that could not be seen by the untrained eye.  Another scientist, Karina Guziewicz, senior author on the study and a senior research investigator at Pennsylvania's School of Veterinary Medicine, says that "Everything we found suggests that gene therapy will be the best approach to treating this disease, and we are looking forward to taking that next step."  If Karina Guziewicz, a trained scientist, believes that gene therapy is the best approach for treating Achromatopsia, a rare disease that confuses vision, then we should definitely start testing more about it.  My one question is: how long will it take to develop a usable cure for this rare disease and how rare is the disease (1 in ______)?