The subject of orphan diseases is at times a very pessimistic one. These diseases are ones that affect fewer than 200,000 citizens, and although they are often deadly or chronically debilitating in nature, it can be hard to get funding for the orphan drugs necessary to treat them. Because of this, it is highly important for pharmaceutical companies working on developing these drugs to spend their money as efficiently as possible. Luckily, the American Journal of Human Genetics has recently made a discovery that may help them to do just that.
Nordqvist’s article discusses what researches have recently found out about orphan diseases – that many of them come from mutations in genes that are essential to survival – meaning that without these, an organism would die right away, soon after, or would at the very least have a significantly decreased lifespan. This information contrasts what scientists know about the majority of other more common diseases that are caused by mutations in nonessential genes.
All right, so why is this at all important.
Orphan drugs are medicines and treatments that very often have a difficult time getting funding for their research. Because of this, it is very important that labs and research organizations use the money they do have in the most efficient way possible. This new information is relevant because it helps scientists to somewhat understand the origins of these diseases, and as a result how to best focus their efforts. Because the afflicted person or animal cannot survive without the gene, it is beginning to seem like complete eradication of the disease is less achievable than previously considered. Instead of trying to get rid of the disease and “cure” the individual, research should be more dedicated to treatment in the areas of lessening the effects and growth.
While on the surface this discovery may not seem exactly earth-shattering, it is a little piece of information that will help scientists to focus their efforts, concentrating on a smaller playing field instead of a large range of attempts at finding a method of helping those suffering from orphan diseases.