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Abstract Details

A Genetic Key Lay Hidden in the Shores of Lake Maracaibo—Historical Review of Genetic Research of Huntington's Disease in US and Venezuela
History of Neurology
P1 - Poster Session 1 (8:00 AM-9:00 AM)
1-015

The earliest extended description of Huntington's disease was described by physician George Huntington in 1872 in patients who presented with abnormal movements, dementia, and suicidal tendencies, which worsened throughout the years. However, it was only after several years of extensive research that the HD gene was found.

To divulge the impact of the collaborative genetic research obtained from samples of the largest cluster in the world of families with Huntington's disease, which allowed scientists worldwide to localize the gene associated with Huntington's and understand genetic modifiers and environmental factors associated with this devastating degenerative condition

Literature review

In 1955, Venezuelan doctor Americo Negrette discovered multiple patients with shared ancestors who showed a peculiar gait disorder and psychiatric symptoms in San Francisco, Maracaibo; later, he described his findings in a book in 1963. In the United States, Nancy Wexler, a professor who devoted her life to understanding more about Huntington, discovered Negrette's description and embarked on a twenty-year expedition in Venezuela to collect many samples from affected individuals. The findings of the U.S- Venezuela Collaborative Research Project were critical in localizing a DNA marker in 1983 and, finally, in 1993, the defective gene on chromosome 4p16.3. This discovery was essential in making part of the Human Genome project possible, expanding potential treatments and interventions for multiple genetic diseases.

A literature review of the impact of the U.S – Venezuela Collaborative Research Project's groundbreaking discovery of Huntington's disease genetic and environmental factors and the future of genetic testing and treatment.

Authors/Disclosures
Maria Andreina Hernandez, MD (Urby)
PRESENTER
Dr. Hernandez has nothing to disclose.
Roopa Sharma, MD Dr. Sharma has nothing to disclose.
Yaqian Xu, MD, MPH (Rutgers NJMS) Dr. Xu has nothing to disclose.
Erin M. Feinstein, DO (Rutgers New Jersey Medical School) Dr. Feinstein has nothing to disclose.