In a New Approach to Fighting Disease, Helpful Genetic #Mutations Are Sought - NYTimes.com
▻http://www.nytimes.com/2014/12/29/health/in-a-new-approach-to-fighting-disease-helpful-genetic-mutations-are-sought.
Doug Whitney should have died years ago. The 65-year-old resident of Port Orchard, Wash., has a devastating gene mutation that — according to the medical literature — causes early onset Alzheimer’s disease in everyone who inherits it.
The mutation killed Mr. Whitney’s mother and nine of her 13 siblings, and it killed Mr. Whitney’s older brother. Every one of them began showing symptoms when they were in their 40s. Most died by their mid-50s. In the next generation, six cousins died of early onset Alzheimer’s, and two others are in the final stages of the disease. One of his cousin’s children also has Alzheimer’s.
But Mr. Whitney has somehow escaped that fate. His memory is intact, and he has no signs of Alzheimer’s disease. Researchers want to find out why. They suspect he has another gene mutation that somehow protects him from the horrific Alzheimer’s gene mutation, or that at least substantially delays the disease’s onset.
So Mr. Whitney has become Exhibit A in a new direction in genetics research. After years of looking for mutations that cause diseases, investigators are now searching for those that prevent them.