When a former classmate offered Canadian Dr. Marcy MacDonald an
opportunity to work on Huntington disease (HD) research, the young
molecular geneticist jumped at the chance. She packed her bags and
headed to Boston to join Dr. Jim Gusella in the hunt for the HD gene.
It was 1984, and the search had captured the imagination of
scientists around the world. Jim had found the rough location of the
HD gene, somewhere near the tip of chromosome 4. Researchers
were fired up at the prospect of identifying the single gene mutation
that lay behind the disease and then using that information to
The breakthrough came a decade later. Dr. MacDonald and Dr.
Gusella and their team, working in an international collaboration,
made headlines around the globe with the announcement they had
finally found the elusive HD gene, thanks in part to the cutting-edge
genetic manipulation techniques that Dr. MacDonald’s laboratory
brought to the project.
While the Huntington’s community celebrated, the discovery also
inspired a new wave of genetic research. Suddenly, there was proof
that molecular genetic techniques could successfully be used to
identify genes based solely on their chromosomal location. “It really
inspired a paradigm,” Dr. MacDonald explains.
Since then, Huntington’s research has continued to break new
scientific ground, pioneering the use of “knockin mice” that replicate
the HD mutation as an animal model for genetic disease and
providing the impetus for accurate genetic animal models to provide
fundamental insights into other neurological diseases such as
Alzheimer’s and ALS.
Dr. MacDonald is quick to emphasize the crucial role that families
have played in all aspects of this research. She cites the detailed
family history records that guided the hunt for the gene, the blood
samples from families around the world that made genetic research
possible, and the hundreds of individuals who have participated in
clinical trials to date.
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