For the First Time, Geneticists Diagnose Disease Through Whole-Genome Analysis
Monday, October 19, 2009 - 14:42
in Biology & Nature
For the first time, researchers have made a clinical diagnosis by sequencing the entire protein-coding parts of a person's genome. Protein-coding DNA only makes up about one percent of the human genome, but is responsible for about a large portion of diseases with a genetic component. The Yale team was asked to do the genetic study by a Turkish doctor with a five-month old patient suspected to have Bartter syndrome, a potentially fatal kidney problem that causes dehydration. After sequencing the protein-coding parts of his DNA, they found that the initial diagnosis was incorrect. He actually had a mutation in a gene that causes problems in the intestines, leading to congenital chloride...