KU Alzheimer’s Disease Research Center collaborating with Brigham Young University on study of blood test for early detection of Alzheimer’s disease

The University of Kansas Alzheimer’s Disease Research Center (KU ADRC) has entered into a collaboration with Brigham Young University (BYU) to conduct a validation study of a blood test for the early detection of neurodegeneration in Alzheimer’s disease. If successful, in addition to aiding in the early detection of Alzheimer’s, this test could assist in the monitoring of disease progression and contribute to the development of new diagnostic tools and treatments.

The blood test, in development now at BYU, is designed to detect small fragments of DNA released into the bloodstream when brain cells — such as those neurons affected by Alzheimer’s disease — die. These small fragments, known as cell-free DNA, carry layers of important information, including DNA sequence and epigenetic markers such as methylation, a chemical modification that regulates gene activity.

Using technology licensed to the biotechnology company Resonant, researchers at BYU will analyze cell-free DNA methylation as an early indicator of neurodegeneration in blood samples from healthy individuals who developed Alzheimer’s disease. KU ADRC is providing 775 longitudinal Alzheimer's samples for that analysis. These blood samples and data were collected from a cohort of people with Alzheimer’s disease over a period of up to 12 years, which allows for the analysis of how cell-free DNA measures change in the blood over time.

“We are bringing together the best of both worlds: the work we have done to collect these samples and data over time and the work BYU has done with this promising measure that is really cutting-edge,” said Jeffrey Burns, M.D., co-director of KU ADRC. “This is why we collect these data and why people participate — and now it really enables us to move the science forward.”

Cell-free DNA circulating in the bloodstream has emerged as a promising tool for early Alzheimer’s detection because of its ability to capture both general signs of neurodegeneration and disease-specific changes that can inform diagnostic testing. By studying methylation patterns, researchers can detect and quantify cell-free DNA from specific neurons affected by Alzheimer’s disease as well as other neurodegenerative conditions.

Initial findings from the laboratory of Timothy Jenkins, Ph.D., associate professor of cell biology and physiology at BYU, have shown that elevated levels of cell-free DNA from cortical neurons in the blood are associated with Alzheimer’s disease and cases of mild cognitive impairment that progress to Alzheimer’s. The team has refined their methods for greater detection accuracy and sensitivity. Using the blood samples from KU ADRC, the researchers aim to validate this test with a larger sample size over an extended period.

Alzheimer’s disease, the most common form of dementia, is a major public health concern, affecting nearly 7 million Americans in 2021. Early detection and intervention are critical to delaying symptoms and slowing disease progression. However, current diagnostic tools are typically used after symptoms appear when significant damage has already occurred, shrinking the window of time during which treatments, lifestyle changes and other interventions may slow the disease.

“We are grateful for the opportunity to work with KU ADRC on this important project,” said Jenkins. “This collaboration provides the clinical expertise and samples needed to validate our approach for detecting neurodegeneration. In partnership with Resonant, we aim to accelerate the technology’s availability to researchers and physicians, driving advancements in early detection and clinical application.”