Dr. Henrike Heyne is a senior researcher at the Hasso Plattner Institute and heads the “Genomics, Epilepsy and Precision Medicine” research group. She uses large gene databases to research the genetic causes of diseases in order to better understand and treat them. In her paper “Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events”, now published in Nature Communications, she deals with polygenic risk scores as an indicator of the risk of developing epilepsy. In this interview, she answered our questions about her field of research.
Hasso Plattner Institute (HPI): What exactly are polygenic risk scores?
Dr. Henrike Heyne: Polygenic risk scores are a type of score that indicates how high the personal predisposition to a certain disease is. They are calculated from the effects of thousands of genetic factors, which individually can have a low influence on the risk of disease, but together can have a high influence, depending on how hereditary a disease is.
HPI: Reliable and early diagnosis of epilepsy is still a challenge today. Why is that, and how does your research on polygenic risk scores change this?
Heyne: It is often difficult to make a diagnosis of epilepsy because unexplained seizures can have other causes. An early diagnosis can be life-saving, as further seizures can be prevented with the right therapy. However, the EEG (electroencephalography), which is central to the diagnosis of epilepsy, cannot provide definite information in many cases. As there are no other good biomarkers, we hope that polygenic risk scores could help in the diagnosis of epilepsy in the future.
HPI: What are the main findings of your research project?
Heyne: As expected, people with epilepsy had a higher genetic risk of epilepsy. However, we also examined participants with unexplained seizures, some of whom were later diagnosed with epilepsy. Here, the genetic risk for epilepsy was significantly higher in people who later received a correct diagnosis of epilepsy than in people with only one unclear seizure event. These new results suggest that genetic epilepsy risk could help in the future to determine whether people with an unexplained seizure actually have epilepsy or not.
HPI: In 2021, you and your team presented a paper on polygenic risk scores and epilepsy at the European Human Genetics Conference. What new findings are there between these two publications?
Heyne: In the new version, we have studied a cohort twice as large at 500,000 individuals, used new data to calculate the epilepsy-specific polygenic risk score and gained some interesting additional insights, for example that the same genetic factors have different effects on the risk of epilepsy in biologically female and male individuals.
HPI: What fascinates you about your research topic?
Heyne: I think it's great that I can gain new insights into epilepsy with my research, but I also see the potential to improve clinical care.
Thank you very much for the interview!
Find the complete paper here: “Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events”
Henrike O. Heyne, Fanny-Dhelia Pajuste, Julian Wanner, Jennifer I. Daniel Onwuchekwa, Reedik Mägi, Aarno Palotie, FinnGen, Estonian Biobank research team, Reetta Kälviainen, Mark J. Daly
