Garcia awarded NIH grant to develop first Huntington’s disease progression tool

Research key to helping those with Huntington’s disease and may aid in Alzheimer’s and Parkinson’s research
November 22, 2016

The National Institutes of Health (NIH) recently awarded Tanya Garcia, PhD, assistant professor at the Texas A&M School of Public Health, a faculty development award in excess of half a million dollars to help her develop a statistical tool to track the progression of Huntington’s disease (HD).

Although estimates vary, more than 16,000 Americans are thought to have HD, a progressive neurodegenerative disease that causes a loss of cognitive, behavioral and physical control. It is a genetic condition that typically onsets in the person’s 30s or 40s. Because it is a dominant trait, everyone who carries the gene will eventually develop the disease, and they would have a fifty-fifty chance of passing it on to their children.

“I feel a sense of urgency to further study the overall progression of HD,” Garcia said, “which is critical to the timing of therapeutic interventions and design of effective clinical trials to help individuals who suffer from this disease.”

Garcia developed preliminary results for the NIH grant proposal during her time as a 2013-2015 Human Biology Project Fellow of the Huntington’s Disease Society of America (HDSA) on HD. Her work with HDSA and the School of Public Health’s Research Enhancement Development Initiative significantly contributed to her being awarded the grant from the National Institute of Neurological Disorders and Stroke, part of the NIH. Garcia will use the award from NIH to develop a statistical tool: the HD Progression Risk Assessment tool (HD-PRAT) which is aimed to help evaluate a person’s individual risk for when different disease symptoms will occur and visualize estimated, personalized trajectories of the HD.

“Significant gaps exist in the transitional period from pre-manifest to manifest HD, particularly how and when overt clinical symptoms and neurological deterioration develop,” Garcia said. “My research will focus on improving prediction of HD motor-diagnosis by modeling the time-varying effects of multiple clinical performance measures and to improve identification of disease-relevant brain regions in relation to HD motor-diagnosis by modeling the spatial-temporal brain structure.”

Over the next 3 years, Garcia will work with esteemed neurologists and statisticians to best develop HD-PRAT: Raymond J. Carroll, PhD (Texas A&M University), Karen Marder, MD, MPH, and Yuanjia Wang, PhD (Columbia University), Jeffrey Morris, PhD (MD Anderson), Elizabeth Aylward, PhD (Seattle Children’s Hospital) and Samuel Mueller, PhD (University of Sydney). These mentors and collaborators will help Garcia to ensure that HD-PRAT is developed with the patient’s interest in mind.

“Improved precision medicine approaches are needed in treating HD,” Garcia said, “and my goal is that HD-PRAT will provide ways to predict the pattern and intensity of an individual’s clinical and neurological changes over time while increasing the capacity to personalize early interventions, based on these learned predictions.”

Garcia’s hope is that these improved predictions will ultimately provide more informative genetic counseling sessions for presymptomatic carriers. It could aid in both treatment options and making important life decisions, such as marriage or family planning.

“As HD may be a protein misfolding disorder similar to Alzheimer’s and Parkinson’s, this research may also serve as a starting point for evaluating the risk and pattern of progression for these neurodegenerative disorders as well,” Garcia added.

— Rae Lynn Mitchell

You may also like
Emma Watson
Graduating public health senior gives commencement address
Diabetes-related hospital mortality affected by geography
Diabetes research
Researchers study community factors related to diabetes
Integrated Public Health
Integrated Public Health Core Program diversifies education