A piece of striking news in the field of neurodegenerative disease genetics caught my eye this morning as I sat on the train to Pennsylvania. As a friend and relative of Alzheimer’s Disease patients, awareness of genetic predisposition and preventive measures is critical.

An international team partly consisting of researchers from the Mayo Clinic in Florida and Minnesota has identified a gene that could triple an individual’s chances of getting Alzheimer’s Disease. Published Wednesday in the New England Journal of Medicine, a study identified a set of genetic variants in TREM2 (of which R47H was most common AD patients) that appeared to strongly predispose people to AD. 1,092 AD patients and 1107 control patients were tracked during follow-up studies. The TREM2 variant was in 1.9 percent of AD patients and only 0.37 percent of control patients, furnishing unequivocal evidence of its potency in determining predisposition to AD. Fortunately, the gene does not have 100 percent penetrance. Once identified in a young individual or family members, preventive measures may be taken from a young age. For the full story, click here




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