Diagnosis from Sequencing of Patient’s Genes October 25, 2009

I found an article mentioning a promising method for diagnosing diseases without unknown origin.Though it’s still not a realistic option to perform sequencing in clinics and hospitals in many parts of the world.

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.