A team of researchers at the HudsonAlpha Institute for Biotechnology helped provide genetic context to Alabamians with early-onset dementia, giving them a more complete picture of their affliction and how it might affect their family. In the process, the researchers also learned new information about genetic risk factors that may contribute to the disease. They recently published their findings in Molecular Case Studies.
Thanks to support from the Daniel Foundation of Alabama, patients from the UAB Memory Disorders Clinic received genetic sequencing. A HudsonAlpha genetic counselor then walked them through the results, helping them understand what their genome can tell us about the disease affecting them.
The project at HudsonAlpha, led by Nick Cochran, Ph.D., in the Myers Lab, went into the project with two aims.
First, they knew that collecting and sequencing samples from early-onset patients could identify risk factors and early warning signs. Finding relevant genes has the potential to help with development of diagnostics and treatment tools.
Second, they knew they could provide more context and information to these vulnerable patients. 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’s 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.
“Both caregivers and people living with these devastating diseases are appreciative of receiving some kind of answer when we are able to provide it ,” Cochran said. “For some patients, we are able to indicate with near certainty that there is a genetic cause to their disease, and for others we identify risk factors that don’t fully explain their symptoms. Either way the findings shed some light where they previously had no answers at all.”
The study found many of the patients carried risk variants in relevant genes. In fact, 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 genetic 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 further types of biological samples to be used in researching biomarkers. The team at HudsonAlpha hopes to use these samples to contribute to better methods of early detection. This study takes the Institute and the medical community one step closer to that goal.
