Disease Mutation Tracked Down, Ending ‘Curse’ for Colombian Families

Discovery of their gene mutation was cause for celebration among two extended families who had been cursed with migraines, early strokes, and dementia for generations.

In their insular world in an isolated Colombian valley, the affliction had become synonymous with one of the family names, invoking a social stigma with darker overtones of punishment for ancestral misdeeds. Then, suddenly, their misfortune had a different label—cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, or CADASIL.

“For them, the mutation was a relief,” said Joseph Arboleda-Velasquez, a graduate student at Harvard Medical School (HMS) who first organized the family trees and then led the scientific team that identified the mutations. “It was a disease caused by a mutation in a gene. It happens to other families in the world and has nothing to do with something they’ve done wrong.”