In this article written by Dr. Cody, she discusses why we can’t just put back the missing piece of a chromosome.
Wouldn’t that just make things so easy? Gene therapy should just be a simple fix but as of today, it is impractical. The technology just doesn’t exist and the chromosome p arm is just so big.
The next part of the equation is that not the entire chromosome arm isn’t affected so it doesn’t need to be replaced. This is because only a few of the many genes in these large multi-gene pieces of the chromosome are in actual need of correction. Dr. Cody explains the difference between a dosage sensitive gene and a insensitive gene. For chromosome 18 deletions most genes are dosage insensitive because their functions are not sensitive to the “dose” or the number of copies of the gene. In the case of duplications it is not clear exactly how many genes are responsible and in need of some dosage correction. With science and technology it is a doable task to figure this out.
At this point in the article, we question if gene therapy is even the answer. Gene therapy is essentially any therapy that seeks to correct a condition by changing the gene and instead perhaps this could be done through gene replacement.
The next few paragraphs discuss in detail how is his could be possible and what needs to happen. Experimental procedures along with science gives new developments in many areas that can help to advance our goal of making the chromosome 18 conditions fully treatable.
Please read the full article here.