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6 March 2014 1:04 pm ,
Vol. 343 ,
Magdalena Koziol, a former postdoc at Yale University, was the victim of scientific sabotage. Now, she is suing the...
Antiretroviral drugs can protect people from becoming infected by HIV. But so-called pre-exposure prophylaxis, or PrEP...
Two studies show that eating a diet low in protein and high in carbohydrates is linked to a longer, healthier life, and...
Considered an icon of conservation science, researchers at World Wildlife Fund (WWF) headquarters in Washington, D.C.,...
The new atlas, which shows the distribution of important trace metals and other substances, is the first product of...
Early in April, the first of a fleet of environmental monitoring satellites will lift off from Europe's spaceport in...
Since 2000, U.S. government health research agencies have spent almost $1 billion on an effort to churn out thousands...
- 6 March 2014 1:04 pm , Vol. 343 , #6175
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ScienceShot: New Hope for Identifying Mystery Diseases
2 October 2013 5:00 pm
When a baby is slow to crawl or talk or has other symptoms suggesting a genetic disorder, parents often find themselves embarking on a long, frustrating quest for answers. Doctors may order a series of tests but cannot arrive at a specific diagnosis. Now, cheap DNA sequencing could help uncover the causes of such mystery disorders. The idea is to sequence the 1% of the patient’s DNA that codes for protein—the “exome”—then sift the data for the genetic culprit behind the disease. Today in The New England Journal of Medicine, researchers report that using exome sequencing, they successfully identified the mutations underlying the conditions of 25% of 250 patients, most children with neurological disorders. Among them were three patients with Cornelia de Lange syndrome, which can cause intellectual delays and distinctive facial features such as long, thick eyebrows and downturned lips (above). This success rate suggests that exome sequencing could be used routinely for clinical diagnosis of a variety of rare genetic conditions.