Earlier this month, doctors at Children’s Mercy Hospital in Kansas City, Mo., were able to use rapid DNA sequencing and analysis to identify the genetic mutation keeping a baby girl from eating and growing.
The hospital team identified the cause of her problems — a genetic disorder that can be treated with intensive nutritional support and vitamins to stimulate her mitochondria, the powerhouses of cells — and ruled out other progressive and often fatal conditions. In other words, the genomic diagnosis helped shape her clinical care, pointing the way to the nutritional supplements the girl needed to improve and the best way to feed her. Read more…
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Read more : Genomics Technology Races to Save Newborns
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