At 80 years old, Nancy Wexler continues to confront Huntington’s disease, a hereditary neurological disorder that progressively impairs a person’s movement and cognitive abilities. Wexler, who has spent much of her life researching the disease, now faces its effects firsthand in her Manhattan apartment, where speech and mobility have become increasingly difficult. Despite her condition, Wexler’s legacy in Huntington’s research remains profound.

Huntington’s disease is a fatal genetic disorder characterized by involuntary movements, cognitive decline, and psychiatric symptoms. It typically emerges in mid-adulthood and has no known cure or effective treatment. The disease affects tens of thousands in the United States and is inherited in an autosomal dominant pattern, meaning each child of an affected parent has a 50% chance of inheriting the gene.

Wexler’s personal connection to the disease runs deep. Several members of her family, including her mother, grandfather, and uncles, suffered from Huntington’s. In 1968, while Wexler was in Europe on a Fulbright fellowship, she learned her mother had the disease, a revelation that would shape her career and life.

After earning a Ph.D. in clinical psychology from the University of Michigan, Wexler focused her research on the experiences of those at risk for Huntington’s. Early in her career, she co-led efforts to support affected families and raise awareness. Her work became pivotal during the 1980s, when she helped organize scientific research in a remote region around Lake Maracaibo in Venezuela, home to one of the largest known clusters of Huntington’s cases worldwide. There, the team traced the disease to a common ancestor and identified genetic markers linked to Huntington’s.

This work culminated in a breakthrough in 1983: the discovery of a genetic marker that could indicate the presence of the Huntington’s gene. This advance led to the development of a blood test enabling at-risk individuals to learn whether they carried the gene, marking the first predictive genetic test for a neurodegenerative disease.

Wexler herself chose not to undergo testing for many years, despite her central role in developing the test and the growing evidence of symptoms developing in her early fifties. She later explained that the psychological burden of knowing her genetic fate was daunting. “I preferred to meet the devil when he was on my doorstep,” she said.

Although experimental drug trials for Huntington’s have taken place in recent years, including an attempt involving Wexler, none have proven successful or produced treatments that slow disease progression. In her case, a clinical trial she joined was ultimately halted due to adverse effects.

Her sister, Alice Wexler, who is not a carrier of the gene, has remained a close companion and caregiver, visiting regularly. Both sisters reflect on the impact of the predictive test but do not regret their choices regarding genetic testing. Alice noted she might have wished to know her status earlier to make informed decisions about having children, but by the time the test was available, it was too late for her.

Nancy Wexler’s decades of dedication to Huntington’s research have been widely recognized with prestigious honors, including a Lasker Award. Her work has been instrumental in advancing understanding of the disease and shaping approaches to patient care, genetic counseling, and scientific inquiry. Despite the personal toll Huntington’s has taken on her, Wexler remains a central figure in the quest to unravel this devastating illness.