– Since the start of our work this disease has been at the very forefront within gene therapy. This is very spectacular but in our corridor it has become an every-day event, says Björn Pilebro to SVT Västerbotten.
In Umeå one of the first patients in the world was treated with the Nobel Prize awarded gene editing technology CRISPR in order to slow down the hereditary and deadly Skellefteå disease. The results have shown that the course of the disease has been slowed down, SVT Västerbotten reports.
– Now we are part of a larger placebo-based study that is ongoing both here in Umeå and in Stockholm, where the patients will be monitored for 15 years, says Björn Pilebro, chief physician in cardiology.
The Skellefteå disease is due to a gene change and by extension it is deadly. The disease is primarily prevalent in Norrbotten and Västerbotten and can, among other things, show symptoms in sensory nerves and muscular nerves.
One challenge is to find a method for discovering the disease in time. Björn Pilebro hopes that in future this could be done with a simple blood sample which could give an indication as to whether you carry the disease.
– You could then recommend people to provide a blood sample each year and screen for those people who need a more thorough examination, he says to SVT Västerbotten.
FACTS
The CRISPR Cas 9 method is a type of tool that makes it possible to, in a simple manner, cut and paste in genes. As it is possible to programme the gene editing method to cut in any gene, it could be used as a tool to cure genetic diseases.