Unlocking the secrets to Huntington’s Disease

Tanya Garcia, Ph.D.

Tanya Garcia, Ph.D.

Planning for the future can be very challenging, whether deciding on college or a career, or even when and how to start a family. For individuals with a family history of Huntington’s disease (HD) these decisions can be even more difficult.

HD is a hereditary, neurodegenerative disease that causes a loss of cognitive, behavioral and physical control, and for which there is no existing cure. Typical early symptoms include depression, forgetfulness and uncontrollable twitching. As the disease progresses, patients begin to experience further loss of motor control, physical rigidity and even dementia.

Although symptoms can begin at any age, they typically present in adults who are in their mid 30’s to 40’s. Currently there are more than 30,000 known individuals in the United States who have been diagnosed with the disease, and at least 200,000 are at risk of inheriting the disease.

“Because early symptoms are difficult to assess, an early diagnoses may be missed without genetic testing,” said Tanya Garcia, Ph.D., assistant professor at the Texas A&M Health Science Center School of Public Health. “Symptoms can often be confused with menopause, mood disorders, Alzheimer’s disease, attention deficit disorder, and even alcohol intoxication.”

Garcia is currently working on a two-year, $150,000 research project funded by the Huntington Disease Society of American (HDSA). Joined by collaborators at Texas A&M and Columbia University, the team is working to develop statistical methods to evaluate patient-specific features – including genetic markers, brain measurements, and results from cognitive and motor assessments – to better determine what features impact motor-onset of HD and the statistical probability of when onset will develop.

“Clinicians from around the world have carefully collected data from different studies, and our goal is to develop statistical models that will not only advance the fundamental understanding of HD, but that can provide immediately useful information to patients,” Garcia said. “Our project aims to identify important biological markers that can track disease progression and predict disease onset.”

Results from the statistical models will make genetic counseling sessions much more informative and give patients a clearer understanding of their prognosis, education about this disease, and understanding how it will affect lives is vital. The more informed a person can be, the better prepared they will be to properly manage HD.

As a result of the physical and emotional impact this disease has on a person, the leading causes of death associated with HD are pneumonia, heart disease, suicide, asphyxiation and malnutrition. While there is no cure, people can better manage the disease with a strong support system, therapy and medications to help treat symptoms.

“The more we can understand about HD, our patient’s genetic data, and what it means, the better chance we have to eventually putting a stop to this disease.”


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