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FD Featured in Science Article
"Chasing a Disease to the Vanishing Point" looks at
FD Treatment, Research and Genetic Screening

The journal Science, one of the premier global science news publications, features an article about FD in the April 16th edition. In "Chasing a Disease to the Vanishing Point," familial dysautonomia is used as an example of a rare disease that could get caught between the benefits of genetic screening and the possibility that such screening could undermine the ability to raise funds and generate interest in FD.
Genetic screening for FD has led to a decline in new cases, certainly a positive outcome, but it has also given casual observers the impression that the disease is disappearing, which is, unfortunately, not true. The article details some of the efforts being made by researchers, the Dysautonomia Foundation and, most importantly, by the doctors at the Dysautonomia Center in NY, to help people with FD. Both Dr. Axelrod and Dr. Kaufmann of the Center are quoted in the article, as is the discoverer of the FD gene, Dr. Susan Slaugenhaupt of MGH.
The FD article explores the great benefit of genetic screening for helping dual-carrier couples avoid having children with FD and for allowing those couples to have healthy children. It also looks at the tough issues surrounding the practical difficulties of funding FD treatment and research, along with the challenges of attracting doctors and researchers to work on a disease with a diminishing population.
This is the second FD article to appear in a prestigious journal within the last year. The New England Journal of Medicine featured an article on FD in October 2009. 
To see an abstract of the article, go to http://www.sciencemag.org/cgi/content/summary/328/5976/298. To hear a podcast of an interview with the author of the article, Jennifer Couzin-Frankel, go to



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