What's Behind Many Mystery Ailments? Genetic Mutations, Study Finds

Olivia Doyle

Mr. Ippolito

AP Biology

18 March 2018

Zimmer, Carl. “What's Behind Many Mystery Ailments? Genetic Mutations, Study Finds.” The New

York Times, The New York Times, 15 Mar. 2018, www.nytimes.com/2018/03/15/health/genetic-mutations-diagnosis.html?rref=collection%2Fsectioncollection%2Fscience&action=click&contentCollection=science®ion=rank&

This week, I read the New York Times article entitled “What’s beyond mystery ailments? Genetic mutations, study finds”. The article discussed a study that examined DNA of a group of patients to look for mutations responsible for certain diseases. Scientists have begun to realize that the genetic causes of many inherited diseases are overlooked, which can be dangerous for patients. The study found that it may be possible to identify these dangerous mutations with computer programs, but that much larger databases are needed before we can start sequencing entire genomes of patients. In the experiment, scientists, including Dr. Joshua C. Denny, found 807 undiagnosed patients “carrying mutations in genes linked to 17 different diseases…. Only 8 of these patients had gotten a test that revealed the mutation”. The test revealed that there are hundreds and hundreds of mutations that go unidentified in a patient’s genome.

This study is highly important to the field of genetics, but also to humanity as a whole. With improved technology that can “flag suspicious clusters of symptoms in groups of patients”, scientists now can identify potential causes of disease in an effort to treat or even cure them. According to the article, “It’s possible that as many as 4.5 percent of cases of apparently nongenetic diseases, from infertility to kidney failure, are the result of such mutations”, meaning that gene sequencing identifying mutations could be highly effective in diagnosing genetic diseases. In diagnosing early on, we are increasing each and every patient’s chance of survival. Dr. Denny and Dr. Rehm forsee the best solution as sequencing the entire genome of every patient even before birth, but that this solution does not seem to be in the near future.

In my opinion, the author did an excellent job of presenting the details of the study and explaining their importance. He provided a thorough analysis of the results of the study, leaving the reader highly informed. He included the opinions of the scientists who conducted the experiment, as well as both the failures and successes of the study. However, I think the author should have ended on a more positive note--he ends with a mere quote from Dr. Denny that does not sound too hopeful about future research. I would have liked for him to tie up the article in a more satisfying way. Overall, though, I found this article very interesting and informative and am eager to see the other undiagnosed diseases that scientists have found.