PERT: The newest genetic investment

 A recently published article in the New York Times highlights a new study done by scientists to try and help treat people with rare genetic diseases. Though deadly and life-altering, most rare genetic diseases fail to secure funding for any meaningful treatment due to said rarity. In the long-term, it's hard to invest a lot of money into something that, relative to the population, very little people have, because it's almost a guaranteed loss of money. However, instead of having to target each disease individually, this study brings to light a new method that can apply to a broad amount of diseases and mutations. To do this, scientists looked at the root cause of the problem and attempted to stop it before it could happen. This was done by studying mutations that caused truncated proteins. These proteins place the "stop sign' in the wrong spot and are the cause of many rare genetic diseases and disorders. Previously, scientists would look at what's happening after the misplaced stop, the mutation, and try to fix the problem from there. With new research, scientists have found a way for the stop to be ignored and instead build a fully-functioning, new protein.

Called PERT, this new highlights tRNA, a suppressor that can insert amino acids at stop codons. Scientists are using tRNA to code right through the stop sign and make the proper protein. Using prime editing, scientists are able to place the optimal tRNA in the protein, at any spots where the old tRNA was defective. A big question regarding PERT, is how to safely deliver the necessary treatment into the cells, as other methods of treatment have been found to be dangerous, ineffective, or in some cases deadly. There also have been some logistical obstacles, such as certain patients having to take indefinite doses of medication and the toxic side effects of such long-term exposure. Despite all that, there still remains a positive outlook for patients and scientists alike. There is now more hope for the future that this new method can be improved upon, and people that have rare, life-altering diseases can now look towards the future with a newfound hope, one based in evidence and science and not blind belief.