A revolutionary technique that can be used to repair errors in the DNA offers the prospect of a cure for the rare North Sea disease. Specialists are optimistic, but much research is still needed.
The North Sea disease, which originated in Friesland, is caused by a single error in the DNA. There are only about forty people worldwide with this serious, progressive brain disease. In addition to involuntary muscle jerks, they suffer from balance problems and serious epileptic seizures. There is no effective treatment yet, which limits the life expectancy of patients.
Cutting pieces of DNA from genetic material
The use of a new technique – prime editing – for the first time gives hope for a treatment that could potentially cure North Sea Disease. To make this possible the North Sea Disease Foundation and the academic hospitals in Groningen and Utrecht joined forces. It clinical team at the UMCG treats many patients with North Sea Disease, the UMC-Utrecht has extensive experience with prime editing.
Prime editing is a variant of CRISPR/Cas, a technique that can cut very precisely pieces of DNA from genetic material and can thus change the DNA in almost any place. In the laboratory of the UMC-Utrecht, pediatrician metabolic diseases and associate professor Sabine Fuchs and her team have shown that prime editing can correct the genetic cause of hereditary disorders in the liver and intestines.
Need money for research
“It is a promising development,” says Fuchs. “Our research has so far mainly focused on the liver; We made a kind of cut-and-paste set for that. To treat the brain, we need to make the repair kit even more efficient and we need to develop a strategy for how we deliver it to the affected brain cells. We use a technique in which the cut-and-paste set is also broken down by the cell after the DNA has been corrected. The cell is then fully recovered, completely healthy again.”
The ultimate goal, gene therapy for North Sea Disease, would also be great news for many other patients, with a rare metabolic disease for example. “It is a complicated technique that requires a lot of research,” says Fuchs. To make this possible, the North Sea Disease Foundation has started a fundraising campaign. Four-year, dedicated research by a PhD candidate costs 350,000 euros. “The best thing would be if we could put two people on it.”
Optimistic about the effects of gene therapy
Fuchs is optimistic about the chances of success. Because the treatment intervenes in the disease mechanism, she expects that the progression of North Sea Disease can be stopped if they can treat enough cells. The Utrecht researcher does not dare to predict when the technique could be applied to people.
Tom de Koning of the North Sea Disease research team at the UMCG in Groningen is also hopeful: “We are reasonably optimistic about the effects of gene therapy, because so far MRI examination of the brains of patients with North Sea Disease has shown no clear damage to the brain. We therefore hope that in addition to stopping the progression of the condition, partial recovery may also be possible.”
2023-12-22 18:46:00
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