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12 December 2013 1:00 pm ,
Vol. 342 ,
The iconic 125-year-old Lick Observatory on Mount Hamilton near San Jose, California, is facing the threat of closure...
Recent results from the Curiosity Mars rover have helped scientists formulate a plan for the next phase of its mission...
A new, remarkably powerful drug that cripples the hepatitis C virus (HCV) came to market last week, but it sells for $...
In pretoothbrush populations, gumlines would often be marred by a thick, visible crust of calcium phosphate, food...
Evolutionary biologists have long studied how the Mexican tetra, a drab fish that lives in rivers and creeks but has...
Victorian astronomers spent countless hours laboriously charting the positions of stars in the sky. Such sky mapping,...
In an ambitious project to study 1000 years of sickness and health, researchers are excavating the graveyard of the now...
Stefan Behnisch has won awards for designing science labs and other buildings that are smart, sustainable, and...
- 12 December 2013 1:00 pm , Vol. 342 , #6164
- About Us
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.