Last week Emory posted a news item about a case report published in the American Journal of Human Genetics. The paper described how geneticists at Emory, in cooperation with Sanford Burnham Medical Research Institute in San Diego, used “whole exome sequencing” — a sort of executive summary scan of the genome — to find the cause of a metabolic disease in a young boy.
The case was an illustration of the trend of whole exome sequencing, which is starting to enter clinical practice as a diagnostic technology. A photo of the patient, courtesy of his parents and Sanford Burnham, is a powerful reminder that within every case report, there’s a real person’s history.
“Over the years, we’ve come to know many families and their kids with glycosylation disorders. Here we can tell them their boy is a true â€˜trail-blazerâ€™ for this newÂ disease,â€ says Hudson Freeze, director of the Genetic Disease program at Sanford Burnham. â€œTheir smilesâ€”thatâ€™s ourÂ bonus checks.”