An Interview with Dr. Nancy Wexler: Discovering the Huntington Disease Gene

One morning in 1968, Dr. Nancy Wexler’s mother, Leonore Wexler, had jury
duty in downtown Los Angeles. As Leonore crossed the street on the way to
the courthouse, a policeman yelled to her, “How can you be drunk so early
in the morning?” Leonore realized that she had been staggering – an
obvious sign that something was wrong.
Soon after, Leonore was diagnosed with Huntington disease (HD). Nancy
Wexler, who was pursuing a PhD in clinical psychology at the time of her
mother’s diagnosis, devoted her life to the study of HD. In 1979, Wexler and
her colleagues began a research project in Venezuela to search for the HD
gene. They surmised that finding the gene was the most direct route to the
development of treatments, even cures! They developed a pedigree of over
18,000 individuals and collected more than 4,000 blood samples from the
largest extended family with HD ever to have been discovered. Their data
led to the identification of the gene responsible for HD.
Today, Wexler continues her involvement with HD as the Higgins Professor
of Neurophysiology at Columbia University, and as President of the
Hereditary Disease Foundation. At the November 2011 Huntington Study
Group meeting, Wexler told HD Insights about the series of events that led
to the discovery of the gene responsible for HD.


Source HDInsightis


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