Thursday 4 July 2013

Write a case study analysis paper about Nancy Wexler

According to the
interview with Nancy Wexler published on the Huntington Study Group site (see the link below),
Nancy Wexler, Ph.D., began the study to find the gene that causes Huntington disease (HD) after
her mother fell ill with this disease. Wexler, now the Higgins Professor of Neuropsychology at
Columbia, also serves as President of the Hereditary Disease Foundation.

In
1979, Wexler, along with colleagues, journeyed to Venezuela to find the gene that causes HD.
They studied a family that had HD and collected over 4,000 blood samples and drew up a pedigree
of the extended family, comprising 18,000 people. They were looking for a person with a
homozygous HD gene, meaning a gene that only had the genetic variation that causes HD. Near Lake
Maracaibo, they found children with the juvenile form of HD. These children, along with HD
homozygous individuals, helped them locate the gene that causes HD along chromosome four (see
the link from the Huntington Study Group, below). As Dr. Wexler's page on the Columbia site (see
the link below) explains, the blood samples that she and her team collected in Venezuela also
helped researchers map other genes that result in diseases, including Alzheimer's, dwarfism,
Amyotrophic Lateral Sclerosis (ALS), kidney cancer, and two kinds of neurofibromatosis.

Wexler believed that finding the location of the HD gene would help doctors
develop medicine to treat HD; however, as the article from the Huntington Study Group at the
link below points out, her hopes have yet to be realized. However, finding the gene that causes
HD was the first step in finding an eventual cure.

href="https://huntingtonstudygroup.org/events/an-interview-with-dr-nancy-wexler-discovering-the-huntington-disease-gene/">https://huntingtonstudygroup.org/events/an-interview-with...
href="https://www.columbiapsychiatry.org/profile/nancy-wexler-phd">https://www.columbiapsychiatry.org/profile/nancy-wexler-phd

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