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Dravet syndrome is a rare genetic form of epilepsy that can lead to severe intellectual disabilities. Eline van Hugte of Radboud university medical center transforms cells from the blood of patients with Dravet into brain cells that she grows on a chip. In her PhD research, she shows that this method allows for a better prediction of the nature and severity of this disease. Moreover, it offers opportunities for personalized treatment.
Every year, six to ten children are born in the Netherlands with Dravet syndrome. This is a rare form of epilepsy that manifests itself about five months after birth. Dravet has a hereditary cause and the severity of the condition varies greatly. Children with a mild form have relatively few epileptic seizures and usually develop normally. In children with severe Dravet, the situation is very different. They often have several seizures per day, and many of these children develop a severe intellectual disability. It is therefore very important that doctors determine the severity of the disease as quickly as possible and tailor treatment accordingly. Eline van Hugte's PhD research is an important step towards a better assessment of the severity of Dravet and towards tailored treatment.
Metamorphosis
Neuroscientist Van Hugte took blood from patients with Dravet and from healthy persons. She then did something very special with it: she transformed cells from the blood into brain cells. This metamorphosis ensures that, just like real brain cells, they emit electrical currents which they use to communicate with each other. Van Hugte grew the brain cells on a chip that measures the currents. This allowed her to map the behavior of the cells.
‘Brain cells from Dravet patients behaved very differently from those of healthy people’, says the researcher. 'We also found strong links between the type of genetic defect and the behavior of the cells. Dravet can be caused by various errors in the DNA. In the future, our method may allow us to determine the nature and severity of this disease earlier.'
Vulnerable brain
The research also offers opportunities for better treatment of Dravet. For example, the scientists tested the effects of various medications available for the treatment of Dravet on the cultured brain cells. This showed that medicines that work well in certain patients also have beneficial effects on their own cultured cells. This method can therefore predict whether medication will work for a specific person. This is crucial, because every day that a child has to wait for effective treatment causes damage to the vulnerable young brain.
‘And it does not end there’, says neurobiologist Nael Nadif Kasri, who led the study. 'We can also test new medicines on the cultured brain cells. This gives us an idea of their effectiveness and ensures that only the most promising ones progress to studies in patients. This way we do not have to expose children to drugs that are probably not effective, but do have unpleasant side effects.'
More information about this PhD thesis defense
PhD thesis defense of Eline van Hugte July 5th at 10.30 a.m. Title of dissertation: Exploring the Equilibrium between Seizure and Synchrony; Neuronal network development in health and disease (available online after 5 July). Supervisors: prof. dr. N.N. Kasri, prof. dr. H. van Bokhoven, and prof. dr. M. Majoie. The defense can be followed via this livestream.
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