Patient-derived neurons in the lab as a model for testing anti-epileptic drugs

Friday 5 July 2024, 10:30 am
PhD candidate
E.J.H. van Hugte MSc.
prof. dr. J.H.L.M. van Bokhoven, prof. dr. N. Nadif Kasri, prof. dr. H.J.M. Majoie (Universiteit Maastricht)

Patients with Dravet syndrome often have difficult-to-treat epilepsy. Although clinicians have an idea of which medications can help, it remains challenging to predict which medication will or won't work. This search for the right medication is frustrating for the patient, parents, and clinician. Moreover, the patient experiences epileptic seizures throughout this time, putting additional pressure on their vulnerable young brains. Finding the right medication as quickly as possible is therefore crucial. In this study, blood cells from patients were used to cultivate patient-specific neurons. By testing medications on these neurons, they no longer need to be tested directly on the patients themselves. In this research, we discovered that excitatory or stimulating brain cells play a role in the development of epilepsy in Dravet patients. We also observed that this type of brain cell responded to increased temperatures, an important aspect of the disease. Additionally, we found that the behaviour of these neurons depended on the type of gene mutation in the patient. Lastly, we found that the neurons responded favourably to the medication Valproate, one of the main Dravet medications. This research marks the first step towards a patient-specific treatment for Dravet in the future.

Eline van Hugte (1992), obtained her master in Neuroscience at the VU University in Amsterdam in 2017 (Cum Laude). In 2018 she started het PhD at the department of Human Genetics within the Radboudumc at the molecular neurophysiology group under supervision of Nael Nadif Kasri. She is currently working as a postdoctoral researcher at the Donders Centre for Neuroscience at the moleculair neurobiology group of Dr. Marijn Kuijpers.