This web page was produced as an assignment for an undergraduate course at Davidson College

---

Overview	Journal Articles	Popular Press	Conclusion

Genomics in the Media

 

"Genetic Mutation Linked to Infant Lung Disease": Johns Hopkins Medicine

The popular press article presented by the Office of Communications and Public Affairs by Johns Hopkins Medicine presents the findings discussed in Shulenin et al., but in a more direct and simplified manner than did the original article published in the New England Journal of Medicine. Interestingly, both articles were published at around the same time, with the journal article actually coming out a day after the Johns Hopkins press release. In the popular press version, very little data is given if any at all. No figures or tables are reported and statistical results are limited to the key finding: 16 out of 21 infants having suffered from mutations in ABCA3 showed phenotypic expression as expected due to these mutations. However, this article does convey key aspects of the study in laymen’s terms that is much easier to understand, even for knowledgeable readers who might miss subtle details in the original article. One such example involves the suggestion by Nogee, “that it is also necessary to study the occurrence of ABCA3 genetic mutations in the general population and determine their variability in order to narrow down which gene variants are harmless and which variants lead to disease” (Johns Hopkins Medicine, 2004). Along with their suggestion into investigating genetic mutations for both SP-B and SP-C, the authors attempt to hint at a genome wide association that would compare various mutations on different alleles that might not be picked up in the original article. Also, the press article goes on to say that “the lung surfactants that ABCA3 helps produce are essential for breathing and this work may provide insight into other pulmonary disease” (Michael Dean, Ph.D qtd. in Johns Hopkins Medicine, 2004). Finally the article attempts to put this new finding into perspective by reminding the reader the this work was part of a collaborative effort and that by pursuing the “causes of inherited disorders” they hope to further the knowledge gained so that studies like this one might “provide insights that will improve the live of our patients and their families” (Jeffrey Whitsett, M.D. qtd. in Johns Hopkins Medicine, 2004).

 

---

References

Johns Hopkins Medicine. "Genetic Mutation Linked to Infant Lung Disease." Johns Hopkins Medicine, Based in Baltimore, Maryland. Johns Hopkins Medicine: Office of Communications and Public Affairs, 24 Mar. 2004. <http://www.hopkinsmedicine.org/Press_releases/2004/03_24a_04.html>.