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  • Writer's pictureKirk Hartley

Great New Science – Diagnosing a Disease Based on Gene Sequencing – in 10 Days

Here’s a science follow up to yesterday’s historic ruling by the Massachusetts Supreme Court regarding medical monitoring due to genome level changes. Yesterday, a story popped up that illustrates how fast and far medicine and genomics are moving thanks to incredible computer speeds and software. The gist? In 10 days, scientists sequenced an entire human genome and diagnosed a disease that had baffled the clinicians !!

The full story is here, from the Howard Hughes Medical Institute. Here are key excerpts:

“October 19, 2009 Diagnosis Emerges from Complete Sequencing of Patient’s Genes

For the first time, scientists have diagnosed a genetic disease by completely sequencing all of a patient’s genes. Using high-throughput DNA sequencing technology, Howard Hughes Medical Institute (HHMI) researchers successfully identified a gene mutation that was responsible for the patient’s disease, but had not been suspected based on clinical observations.

Starting with DNA from a blood sample from the patient — an infant in Turkey who was persistently dehydrated and failing to gain weight – the team found in 10 days a gene mutation known to affect electrolyte transport in the intestines and cause a condition called congenital chloride diarrhea. Doctors in Turkey confirmed the diagnosis clinically and were able to provide a treatment tailored to the disease.


I think in the coming years we’re going see a dramatic increase in the use of this kind of technology,” Lifton says. “This is going to be a very powerful technology for disease-gene discovery and clinical application.” Lifton and his colleagues reported their method and diagnosis in an advanced online publication of the Proceedings of the National Academy of Sciences on October 19, 2009.”

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