Mystery diseases diagnosed through Human Genome Project

10/3/2013 | Yahoo

The Human Genome Project has helped move genetic sequencing from the lab to the clinic, resulting in diagnoses of diseases that had long mystified doctors and researchers. Getting a diagnosis helps families end the expensive testing phase and move on to looking for treatments, said Dr. Robert C. Green, a geneticist at Brigham and Women's Hospital and Harvard Medical School. A study published in the New England Journal of Medicine describes how scientists used a new type of genetic sequencing to diagnose mystifying illnesses.

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