Huntsville, Ala. – Researchers at the HudsonAlpha Institute for Biotechnology have learned new information about genetic risk factors that may contribute to dementia, potentially pushing the medical field closer to early detection.
The study, recently published in Molecular Case Studies, focused primarily on patients with early onset dementia. With funding from the Daniel Foundation of Alabama, patients from the University of Alabama at Birmingham (UAB) Memory Disorders Clinic received genetic sequencing.
The project at HudsonAlpha, led by Nick Cochran, PhD, in the Myers Lab, found instances of known, significant risk factors. However, they also found cases where multiple moderate risk factors appeared to combine to contribute to further heightened risk.
“If we can create a more complete picture of the constellation of risk factors for dementia and observe the ways they interact, it could lead to more effective early tests to identify individuals who may be at high risk for dementia, which is critical because the most effective treatments for these diseases will be those that are administered early, perhaps even preventatively,” Cochran said of the results.
The average age of onset for patients in the study is 54. More than 85% of them have some family history of dementia, and half of them have a strong family history. Diagnoses ranged from Alzheimer disease to frontotemporal dementia. In short, most of these patients were afflicted at a young age and have evidence that their family members are also at risk.
The study found many of the patients carried risk variants in relevant genes. Erik Roberson, MD, PhD, headed up the efforts at UAB. “When you collect samples from patients like the ones in this study,” he said, “you’re hoping to come back with any new piece of information for them. In this case, we were able to demonstrate where some of their familial risk was coming from, which matters a lot to both the patients and their caregivers.”
Multiple patients had a combination of moderate risk variants, suggesting that those variants may stack to contribute to a greater risk overall. Understanding the way these risk variants interact could make sequencing more informative for family members of the patients in the study—and eventually patients everywhere.
Now these patients have more information if they want to get their families tested to see if they do harbor one of the near-certain disease-causing genetic changes, which can sometimes also qualify them for clinical trials.
The work continues with support from HudsonAlpha’s Memory and Mobility Program. All patients in the study also provided additional biological samples to be used in researching biomarkers. The recently completed study looked for germline risk factors—contributors that a patient would have from birth. Future phases will look at immune signatures from these patients, hoping to find early ways to see the body responding to the onset of dementia.
From genetic risk to biomarkers, this research helps develop public understanding of dementia’s genetic contributors and how they might be used to help patients.
About HudsonAlpha: HudsonAlpha Institute for Biotechnology is a nonprofit institute dedicated to developing and applying scientific advances to health, agriculture, learning, and commercialization. Opened in 2008, HudsonAlpha’s vision is to leverage the synergy between discovery, education, medicine, and economic development in genomic sciences to improve the human condition around the globe. The HudsonAlpha biotechnology campus consists of 152 acres nestled within Cummings Research Park, the nation’s second largest research park. The state-of-the-art facilities co-locate nonprofit scientific researchers with entrepreneurs and educators. HudsonAlpha has become a national and international leader in genetics and genomics research and biotech education and fosters more than 35 diverse biotech companies on campus. To learn more about HudsonAlpha, visit hudsonalpha.org.
Media Contact:
Margetta Thomas
mthomas@hudsonalpha.org
256-327-0425
