The plaques and tangles of an Alzheimer's brain.
Clues to combatting a devastating disease can come from identifying people who have gene variants – mutations – that protect them, by slowing the illness or lowering the risk that it develops in the first place. Understanding how they do this may inspire treatment strategies for the wider patient population.
Rare variants of three well-studied genes appear to delay inherited forms of Alzheimer's disease – by decades.
Gene #1: The Famous Case of Aliria from the Colombian Family
In 2019. researchers reported on a patient, Aliria Rosa Piedrahita de Villegas, who seemed to have fended off early-onset familial Alzheimer's thanks to a variant of a second, apparently protective gene. The report appeared in Nature Medicine.