Using genomic data to gain insight into disease biology and improve diagnosis of epilepsy

• Applicant: Dr. Henrike Heyne
• Subject Area: Human Genetics ; Clinical Neurology; Neurosurgery and Neuroradiology
• Term: since 2023
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 516649954

The goal of this project is to improve diagnosis and treatment of epilepsy using genomic methods. Specifically, we aim to analyze genomic data from 1000s of individuals with epilepsy, building on previous work (Heyne et al Nature Genetics, 2018, Heyne et al Genetics in Medicine, 2019, Heyne et al Science Translational Medicine, 2020, Heyne et al Nature [accepted], 2022). Together with my group, we would use a hypothesis-free approach to identify novel epilepsy genes and learn about disease mechanisms of rare severe epilepsy. Through extensive genetic data and health data in biobanks with >1M individuals (BioMe, FinnGen, UK Biobank), we also aim to investigate the influence of genetic variants on more common forms of epilepsy. This would help to answer questions such as: Which individuals develop epilepsy after an unspecified seizure event? Why do some individuals develop seizures after risk factors such as alcohol withdrawal or stroke and others not? The knowledge gained could potentially enable the development of clinically applicable algorithms that predict how likely at-risk individuals (e.g. with an unspecified seizure or an environmental risk factor) will develop epilepsy.

• DFG Programme: Research Grants