*UPDATE* from a 2023 Research Grantee
Epilepsy Foundation New England is happy to share the following update from Dr. Sattar Khoshkhoo and Dr. John Rolston. They were awarded $75,000 in March 2024 at the 3rd Annual Blue Skies Challenge. Below is a summary of their findings since receiving the award.
Title: Minimally Invasive Genetic and Molecular Profiling of Focal Epilepsies
We've been working on improving how we collect and analyze tiny pieces of brain tissue from patients undergoing a procedure called stereo-EEG, which is used to locate where seizures start in the brain. We figured out a way to collect these samples more effectively during surgery, making sure we save as much useful material as possible. In total, we collected 194 samples from 17 patients and categorized them based on whether they were from areas where seizures start, spread, or don’t seem involved.
A big challenge has been getting clean and useful genetic information from these tiny samples, something past teams struggled with. To solve this, we tried two new methods:
- First, we separated out just the brain cells from other types of cells (like blood) to reduce "noise" in the genetic data. This worked surprisingly well.
- Then, we tackled how to read the DNA itself. Traditional methods didn’t work great with such small amounts of material. So, we developed two new DNA sequencing methods that work well even when we only have tiny amounts of DNA. One method is great at catching and correcting errors, and the other gets us more complete and accurate data than usual.
Now that we've worked out most of the kinks, we’re moving into the next phase. Soon, we'll do a pilot test to see how well our new methods work on the samples we’ve already collected. We’re also getting ready to expand the project to more hospitals to make sure our approach works across different centers. If all goes well, we’ll use the results to apply for larger grants to keep pushing this forward, hoping to eventually use it to help patients more directly.
Epilepsy Foundation New England held its fourth Annual Blue Skies Challenge in March 2025 and awarded $155,000 to local teams advancing epilepsy research.