Huntington’s is a hereditary neurodegenerative disease caused by excess repetitions of three building blocks of DNA — cytosine, adenine, and guanine — on a gene called huntingtin. The mutation results in a toxic version of a key brain protein, and a person’s age at the onset of symptoms relates, roughly, to the number of repetitions the person carries.
The disease is relatively rare, but in the late 1980s a Colombian neurologist, Jorge Daza, began observing a striking number of cases in [Colombia].
This Colombian region is now thought to house the second largest extended family with Huntington’s. Its members are of intense scientific interest because they hold clues to genetic modifiers of, and potential treatments for, Huntington’s disease. Yet since Dr. Daza’s untimely death in 2014, they have been cut off from a world of promising experimental treatments, genetic counseling and often basic medical care.
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In recent years, a group of researchers at the Universidad Simón Bolívar, in Barranquilla, have taken on the daunting task of rekindling clinical and genetic studies that stalled after the death of their colleague Dr. Daza. It felt, said neuropsychologist Johan Acosta, who is leading the effort, “like starting from zero.”
