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Medicine against North Sea disease a step closer: UMCG research has results

A cure for North Sea disease is one step closer. In experiments with fruit flies, researchers have found substances that reduce seizures of epilepsy, one of the symptoms of the disease.

The tests were carried out on fruit flies. This was done because its genetic material resembles that of people who have North Sea Disease. The aim was to see how the disease progresses and what can be done about it.

Researcher Jenke Gorter of the UMCG has tested more than 1400 substances on fruit flies in two years, she says to Omrop Fryslân. ‘So far the research has mainly focused on epilepsy attacks. But of course we want the other movement disorders to decrease as well. One gene mutation takes care of all symptoms in North Sea disease. There is a mechanism underneath that. ‘

What is North Sea Disease?

The North Sea Disease is caused by a rare genetic abnormality. The name refers to the area where the disease originated.

There are several dozen patients worldwide. People with this disease shake and have muscle twitches day and night, which can lead to seizures. The disease has become more and more severe over the years. Ultimately, patients can no longer walk and talk.

Whole spectrum

According to Gorter, the researchers have gained insight into how that mechanism would work, but some more research is still needed. ‘It would be best if we not only combat the symptoms but that the substances also act on the mechanism. We hope for a drug that can tackle the entire spectrum. ‘

Next year, two new studies will start: one to validate the results of the research that has now been done, and one to search for a drug for another symptom: the movement disorders.

We are running a marathon and the finish is coming

Renske Wassenaar – Mother of North Sea disease patient

More research is needed to find out whether the substances found in the flies work in humans. ‘It can take a long time before the medicine is available,’ says Renske Wassenaar. Her daughter Luna has the disease. “But we have high hopes for it.”

‘Every step is one,’ says Wassenaar. ‘We are running a marathon and the finish is coming. However, it is difficult to tell when exactly there is a rash. That could take years. But we have really high hopes for it now! ‘

Also read:
Unraveling rare North Sea disease one step closer (2019)
Fruit flies are to help in the search for North Sea disease medicine (2019)
Research into rare North Sea disease should help Ruben (11) (2017)

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