After years of studying Huntington’s, pioneering researcher reveals that she has the disease

nancy wexler road map of genes
Credit: Acey Harper

Year after year for two decades, Nancy Wexler led medical teams into remote villages in Venezuela, where huge extended families lived in stilt houses on Lake Maracaibo and for generations, had suffered from a terrible hereditary disease that causes brain degeneration, disability and death.

Her work led to the discovery in 1993 of the gene that causes Huntington’s, to the identification of other genes that may have moderating effects and, at long last, to experimental treatments that have begun to show promise.

Now, at 74, Dr. Wexler is facing a painful and daunting task that she had long postponed. She has decided it’s time to acknowledge publicly that she has the disease she’s spent her life studying and that killed her mother, uncles and grandfather.

Among her greatest concerns are the thousands of Venezuelans from the families full of the disease, whose willingness to donate blood and skin samples, and the brains of deceased relatives, made it possible to find the gene.

“We share DNA,” Dr. Wexler said. “They’re part of my family. They are super-stigmatized. So I thought, this is part of my decision to come out, about me — which I still find hard to do without breaking into tears.”

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