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17 April 2014 12:48 pm ,
Vol. 344 ,
Officials last week revealed that the U.S. contribution to ITER could cost $3.9 billion by 2034—roughly four times the...
An experimental hepatitis B drug that looked safe in animal trials tragically killed five of 15 patients in 1993. Now,...
Using the two high-quality genomes that exist for Neandertals and Denisovans, researchers find clues to gene activity...
A new report from the Intergovernmental Panel on Climate Change (IPCC) concludes that humanity has done little to slow...
Astronomers have discovered an Earth-sized planet in the habitable zone of a red dwarf—a star cooler than the sun—500...
Three years ago, Jennifer Francis of Rutgers University proposed that a warming Arctic was altering the behavior of the...
- 17 April 2014 12:48 pm , Vol. 344 , #6181
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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.