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Some Gene Mutations Are Good

Posted By Prucia Buscell, Thursday, January 01, 2015
Updated: Monday, January 05, 2015

For years, researchers have looked for gene mutations that cause disease. Two scientists who started The Resilience Project have flipped that effort upside down and started looking for gene mutations that protect against disease. Discovery of such positively deviant genes paves the way for drugs that mimic the protective qualities.

A New York Times story by Gina Kolata tells the story of a Port Orchard, Washington, man who has a gene for early onset Alzheimer's. The man's older brother, mother, nine of his mother's siblings, and six cousins began showing symptoms in their 40s, and most died in their 50s. The man, now 65, has no signs of the illness, and researchers are trying to learn whether he has a genetic mutation that is counteracting or substantially delaying the horrifying impact of the Alzheimer's gene that he has.

"Instead of trying to fix things that are broken, let's look at people where things are broken but nature finds a way around it," Dr. Eric E. Schadt, director of the Icahn Institute, a medical research institute at Mount Sinai Hospital in New York, said in an interview with the Times.

Researchers have found many gene mutations that cause disease or predispose a person to an illness, and those seem to be considerably more common than the beneficial mutations. However, with today's fast and relatively inexpensive methods of sequencing DNA, and the ever-growing databases of study subjects whose genomes have been sequenced, scientists can begin to look for the positive mutations. Dr. Schadt and Dr. Stephen H. Friend, director of Sage Bionetworks, a nonprofit research organization in Seattle, are searching databases that hold clinical and genetic information. They are looking for people who, despite having mutations for fatal diseases that strike early in life, have remained healthy far past the age when the illness should have appeared. They have analyzed data from more than 500,000 people, and found only 20 in which a good gene mutation appears to have blocked a bad one. But because no names are attached to the data, the scientists can't contact those people. So they contacted researchers studying extended families with severe genetic illnesses, and they found the Washington man.

Some amazing beneficial gene mutations have already been discovered. One prevents HIV from entering cells and causing AIDS, and that discovery has enabled scientists to treat HIV positive patients by directly editing their cells. Discovery of another gene alteration that prevents build up of LDL cholesterol led to discovery of a drug that is now in the final stage of testing. Researchers using genetic databases have also found mutations in some genes that confer partial protection against heart disease, osteoporosis and Type 2 diabetes.

The Washington man who seems to have defied his dangerous Alzheimer's gene retired recently. He told the Times his life's work now is to help scientists understand the treacherous disease that claimed the lives of so many members of his family.

Tags:  buscell  complexity matters  health  positive deviance  research 

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