Huntington’s Disease: A Primer

Why a 150-Year Death Sentence May Finally Have an Answer

The Disease

In 1872, a 22-year-old physician named George Huntington published a paper describing a hereditary condition he had observed in families on Long Island — involuntary writhing movements, psychiatric deterioration, inevitable death, passed from parent to child with merciless consistency. William Osler later called it one of the most accurate portraits of a disease ever written. Huntington correctly identified the inheritance pattern two decades before Mendelian genetics was even rediscovered.

The gene responsible wasn’t found until 1993, located on chromosome 4 by a team working with over 18,000 individuals from a single extended family in the fishing villages around Lake Maracaibo, Venezuela — communities where the disease was so prevalent it was simply called “el mal” — the evil — and accepted as an inescapable part of life. That discovery became the first autosomal disease gene found through genetic linkage analysis, and the methods developed to find it became foundational tools for the Human Genome Project.