PM.20.026 – Integration of innovative biomedical technologies for optimized personalized treatments for epilepsy

Route: Personalised medicine: the individual at the centre

Cluster question: 098 How can we use breakthroughs in basic biomedical research to develop new medicines?

Approximately 70 million people worldwide (180,000 in the Netherlands) are affected by a type of epilepsy. Epileptic syndromes show a high level of clinical variability and genetic heterogeneity, which imposes a major challenge for diagnosis, prognosis, treatment and patient management. Despite the availability of anti-epileptic drugs (AEDs) a third of patients is refractory to existent medication. For the development of new, better treatments, it is thus crucial that we understand the individual disease characteristics and study the response to medication on an individual basis. Our overall aim is to gain mechanistic insight into epilepsy syndromes and develop advanced human in vitro model systems for personalized medicine. We will take advantage of three recent scientific advances in biomedical research: (i) stem cell-based brain-in-a-dish models, (ii) single-cell transcriptomics, (iii) advanced bioinformatics analysis tools. We specifically aim to: 1) develop robust and relevant stem cell-based models for epilepsy (eg Dravet syndrome and TSC) with high predictive validity 2) to identify co-expression gene networks based on human (patient and stem cell) single-cell transcriptome, with the aim to unravel the cell-type specific contribution to the disease and identify novel connections between epilepsy syndromes 3) to develop nanotechnology to integrate stem cell-data with human diagnostic measures 4) to develop personalized treatment strategies for epilepsy based on existing and novel AEDs for patients that are refractory to existent medication. To achieve these aims we have brought together a team consisting of world-leading experts, including clinical and fundamental epilepsy researchers, stem cell biologists, nanotechnology experts, and bioinformaticians. Together with our industrial partners and societal stakeholders, this multidisciplinary project will seize the unique opportunity to gain broad societal acceptance of a novel technology and its applications in order to develop patient-specific therapies through ‘personalized medicine’.

Keywords

bioinformatics, epilepsy, nanotechnology, stem cell, transcriptomics

Other organisations

Amsterdam UMC, Erasmus Medical Center (EMC), Kempenhaeghe, SEIN, Universiteit Twente (UT)

Submitter

Organisation Radboudumc (RUMC)
Name Prof. dr. J.H.L.M. (Hans) van Bokhoven
E-mail Hans.vanbokhoven@radboudumc.nl
Website https://www.radboudumc.nl/en/people/hans-van-bokhoven