The Discovery, Then the Diagnosis

The woman who discovered the gene behind Huntington’s disease has the disease, which has killed several members of her own family and defined her career.  
 
For 2 decades, Columbia University neuropsychologist Nancy Wexler studied thousands of Venezuelans plagued by Huntington’s—a rare genetic disease that causes uncontrollable movements and a terrifying decline.
 
Ostracized for the condition, they participated in research that allowed Wexler to discover the disease-causing gene, which led to diagnostic tests and experimental treatments.
 
Without approved treatment, many opt out of diagnostic tests, including Wexler—until her symptoms became impossible to ignore.

Now, she hopes her “coming out” will help destigmatize the condition.
 
The New York Times

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