Doug Whitney, 65 years old, has a devastating gene mutation that causes early onset Alzheimer’s disease in everyone who inherits it. Due to this mutation, he should have died years ago. This mutation has killed many members of his family. They all began showing symptoms when they were in their 40s and most died by their mid-50s. However, Mr. Whitney has somehow escaped this fate. His memory is intact and he shows no signs of Alzheimer’s disease. Researchers want to understand why. They think he may have another gene mutation that is somehow protecting him from the Alzheimer’s gene mutation, or that is at least delaying the disease’s onset. Mr. Whitney has now become Exhibit A in a new direction of genetic research. After years of looking for mutations that cause diseases, investigators are now searching for those that prevent them.
By understanding how protective mutations work, researchers are hoping to develop drugs that mimic them and protect everyone. This new approach is turning genetics research on its head, said Eric E. Schadt, director of the Icahn Institute, a medical research institute at Mount Sinai in New York. “Instead of trying to fix things that are broken let’s look at people where things are broken but nature finds way around it,” he explained. In recent years, researchers have found alterations in some genes that partially protect from disease like heart disease, osteoporosis, Type 2 diabetes, and Alzheimer’s. However, now some are starting a more ambitious project, a search for mutations that provide complete protection.
It is only until now, with fast and inexpensive methods of sequencing DNA and with massive, and ever-growing databases of study subjects whose genomes have been sequenced, that it has become possible for researchers to contemplate a search for rarer good genes for protection. One attempt is being led by Dr. Schadt and Dr. Stephen H. Friend, director of Sage Bionetworks, called The Resilience Project. They have analyzed data from multiple databases and have tried other approaches. One approach was contacting researchers studying extended families with a severe genetic disease to see if they came across anyone who seemed protected, which is where they discovered Doug Whitney. Researchers agree that he is certainly unusual, and that he could still get Alzheimer’s, however Mr. Whitney has been waiting. Year after year goes by and nothing has happened. Numerous researchers are now studying him, and he is happy to help. He has just retired and when people ask what he will do now, he has a new reply: “My job is to help them figure out Alzheimer’s. I will do what I can to make it happen.”
Resource: http://www.nytimes.com/2014/12/29/health/in-a-new-approach-to-fighting-disease-helpful-genetic-mutations-are-sought.html?_r=1
