Er zijn veel mogelijkheden voor bachelor en master geneeskundestudenten om een ondersproject bij de vakgroep bewegingsstoornissen te doen. Voor een actueel aanbod van de onderszoeksprojecten zie ook: www.jsmgroningen.nl

Momenteel bieden wij de volgende projecten aan voor een wetenschappelijke stage:

Unraveling disease mechanisms in Noordzeeziekte (progressive myoclonus epilepsy due to GOSR2 mutations)

Nature of the research
We are looking for an enthusiastic student who is not afraid of basic science and lab work.
Of course during your period in the lab you can participate in all the clinical work related to patients with movement disorders (children and adults) at the department of Neurology and Pediatrics.

Background
Recently a novel disorder was discovered in which patients at a young age develop uncoordinated movements (ataxia) and when they grow older develop progressive jerks (myoclonus) and epilepsy. The disorder is caused by mutations in the gene GOSR2, of which its functions are largely unknown.
Remarkably of all the patients known worldwide with this disorder, by far the majority of them is known in our hospital. We suspect that the founder of this defect comes from the province of Friesland here in the North of the Netherlands.
Together with the "Stichting Noordzeeziekte" we try to unravel the disease mechanisms in Noodzeeziekte to gain insight into the cellular functions of the GOSR2 protein.

Research question
With better insight in the pathogenesis of this disease, we will be able to treat our patients better in the near future. Therefore, we need disease models for "Noordzeeziekte" and for this we will use the fruit fly model and will generate a GOSR2 knock-out mouse model. Cellular localization, expression in specific cell types (likely very active in glia cells) and cellular transport will be investigated. Potential new treatments will be tested in these model systems as well.

Workplan
In this project, you will work for a period of 6 months or longer at the lab of Prof Dr O Sibon of the department of Cell Biology or the lab of Dr AJA van de Sluis, Lab Pediatrics, section Molecular Genetics. By means of RNAi techniques you will generate conditional knockdowns of GOSR2 in the fly brain and find out how knockdown of GOSR2 affects glial and neuronal function. Or you will look at the clinical phenotype of the GOSR2 knock-out mouse, does it resembles the human disorder? Next to this you will look in detail at the changes in the mouse brain due to absence of GOSR2.
This research project is an excellent start for an MD PhD project.

References
1. van Egmond ME et al,. The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study. Orphanet J Rare Dis. 2017 7;12:45.
2. van Egmond et al,. Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation. Mov Disord. 2014;29:139-143.

Contact: Dr Tom J de Koning, Dit e-mailadres wordt beveiligd tegen spambots. JavaScript dient ingeschakeld te zijn om het te bekijken. or +31 6 52724622