Bringing Together International Expertise
Participants from Tübingen included Professor Holger Lerche, Dr. Josua Kegele, and Dr. Ulrike Hedrich-Klimosch, all from the Hertie Institute, as well as Dr. Tobias Haack. Dr. Patrick May represented the University of Luxembourg. The Pakistani partners were Professor Shoaib ur Rehman and Professor Assad Ullah Khan from the University of Science and Technology Bannu.
Following welcoming remarks by Professor Ulrike Ernemann, Deputy Chief Medical Director of University Hospital Tübingen, the team discussed the results obtained so far, the next steps in the research, and the planned funding proposal.
A Population That Has Received Little Research Attention
Epilepsy is one of the most common neurological disorders. Although more than 1,000 genes associated with epilepsy have now been identified, the cause remains unknown for many affected individuals. To date, genetic studies have been based predominantly on European cohorts. As a result, people from other regions remain significantly underrepresented.
The Pashtun population in the Pakistani province of Khyber Pakhtunkhwa offers particularly strong potential for new discoveries. Because of the population’s relative genetic isolation, rare inherited forms of epilepsy may be easier to identify.
More Than 100 Families Already Studied
Working with their long-standing partners at the University of Science and Technology Bannu, the researchers have already enrolled 372 individuals from 112 families affected by familial or presumably genetic forms of epilepsy. Initial exome and genome sequencing has identified potential new candidate genes and disease-causing genetic variants.
The planned project will initially focus on the protein-coding regions of the genome. If a case remains unresolved, long-read genome sequencing will be performed. This method can also detect structural changes and other variants that are difficult to identify using conventional diagnostic methods.
From Genetic Analysis to Precision Medicine
The genetic data will be analyzed using established diagnostic methods and international epilepsy databases. Promising genes and variants will then be evaluated through studies within the affected families and through functional experiments.
New gene-disease associations can help determine the cause of epilepsy more precisely. They provide a foundation for more accurate diagnoses, well-informed genetic counseling, and, in the long term, personalized treatments. The findings could also broaden the overall understanding of genetic forms of epilepsy and reveal new therapeutic targets.
A Research Partnership with Long-Term Impact
The project brings together clinical expertise, modern genomics, and functional research in a network spanning Germany, Luxembourg, and Pakistan. At the same time, it strengthens local research capacity by specifically involving students and early-career researchers in Pakistan. This creates a two-way exchange of knowledge that benefits both local patient care and international epilepsy research.
Photo, from left to right: Josua Kegele, Patrick May, Assad Khan, Dilnawaz Khan, Ulrike Ernemann, Shoaib ur Rehman, Holger Lerche, Shoaib Ahmad
