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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. Results have been published in ‘Proceedings of the National Academy of Sciences’.

Staff | 20 October 2009

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 diarrhoea. Doctors in Turkey confirmed the diagnosis clinically and were able to provide a treatment tailored to the disease.

Instead of searching the patient’s complete 3-billion-basepair genome for the disease-causing mutation, the team, led by HHMI investigator Richard Lifton at the Yale School of Medicine, focused only on the small fraction of DNA that encodes proteins. The success demonstrates that this strategy is a viable and efficient means of diagnosing genetic disease.

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