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Rikke Steensbjerre Møller receives DKK 20 million grant from the Lundbeck Foundation’s Collaborative Projects programme

Brain cells communicate via electrical impulses, and maintaining normal brain function requires a delicate balance between inhibitory and activating ones. Excessive inhibition of electrical activity can have a numbing effect, but too much activity can lead to epilepsy.

A small number of newborns have a mutation in a gene that codes for a specific receptor in the brain – the GABA receptor – and this can lead to learning difficulties and epilepsy that is not easy to treat. As this receptor inhibits brain activity, it has been hypothesised that such mutations lead to reduced receptor function and, therefore, to hereditary epilepsy.

However, researchers have recently discovered that this mutation can often lead to enhanced receptor function. Using both stem-cell and mouse models, Professor Rikke Steensbjerre Møller and her project partners will study how mutations that lead to increased receptor function trigger epilepsy and investigate potential new medications to treat patients.

‘By working closely together across specialities, our research will hopefully lead to a fundamental change in our understanding of the underlying mechanisms of genetic epilepsy, as well as explain how a paradoxical increase in inhibitory impulses can cause seizures. Our work will also pave the way for developing new medications for patients with increased GABA receptor activity in the brain,’ explains Professor Møller of Filadelfia Epilepsy Hospital.

The project team is made up of researchers from the Filadelfia Epilepsy Hospital, the University of Copenhagen, and the University of Sydney. Each of the researchers brings unique expertise in epilepsy, genetics, neurophysiology, stem-cell research, mouse models and pharmacology.

The project’s co-applicants and collaborators:

• Professor Jakob Balslev Sørensen, University of Copenhagen, Denmark

• Associate Professor Philip K. Ahring, the University of Sydney, Australia

• Professor Christopher Reid, University of Sydney, Australia.

 

 

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The other Collaborative Projects grant recipients - 2022: