On December 29, 2014, the New York Times reported on recent scientific efforts to identify mutations that may protect against certain genetic diseases and attempt to mimic each such mutation’s positive influence with a drug. One such effort is called The Resilience Project and is being led by Eric Schadt, Ph.D., Director of the Icahn Institute for Genomics and Multiscale Biology at Mount Sinai Hospital in New York City, Professor & Chair, Genomics and Genomic Sciences, and by Stephen Friend, M.D., Ph.D., Director of Sage Bionetworks in Seattle, Washington. This new project intends to identify one million volunteers who should have inherited a specific Mendelian disease (a disease caused by a mutation in one gene), but did not. The Times front-page article, authored by science writer Gina Kolata, spotlighted one such individual, Doug Whitney, who has a gene mutation that causes early-onset Alzheimer’s disease and yet Mr. Whitney, who is now 65 years old, has shown no signs of the disease. The mutation killed Mr. Whitney’s mother, nine of her 13 siblings, and Mr. Whitney’s older brother. All of the victims showed symptoms in their 40’s and most died by their mid-50’s. In the next generation, six of Mr. Whitney’s cousins have died of early-onset Alzheimer’s and two other cousins are in the final stages of the disease. One of Mr. Whitney’s cousin’s children also has early-onset Alzheimer’s. So why and how has Mr. Whitney, himself, apparently been spared from this dire genetic disease even though he has inherited the mutated disease gene? The scientists believe it may well be because he has inherited another gene mutation or mutations that exert a protective effect against the mutation that causes early-onset Alzheimer’s. They are now looking for that mutation or mutations as part of The Resilience Project.
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