SingelSwim Utrecht was a huge success!

Participants of the SingelSwim in Utrecht last Sunday, among which a team from the Hubrecht Institute, raised more than 100.000 euro for research on muscle disease FSHD in the group of Niels Geijsen.

FSHD stands for facioscapulohumeral muscular dystrophy. This disease weakens the muscles in the face (facio), around the scapula (scapulo) and in the upper arms (humeral), but other muscles are also often affected. Because of this, patients are unable to perform many everyday processes, such as smiling, walking, lifting something or closing their eyes. In more than 95% of patients, FSHD is caused by an error in the DNA. Because of this error, the gene DUX4 is turned ‘on’ in the muscle cells of FSHD patients, while in healthy individuals this gene is turned ‘off’. This results in weakening of the patients muscles. A new technology that was developed in the Hubrecht Institute, offers hope for development of a drug that might disable the DUX4 gene.

This new technology is a combination of two pre-existing methods: CRISPR/Cas and iTOP.

The CRISPR/Cas technology uses a tiny genetic scissor to cut the DNA. The specific place in the DNA where this genetic scissor cuts can be determined very precisely. Therefore, the genetic scissor can be designed in such a way that it cuts in the DUX4 gene, to disable it. To be able to cut the DNA, the genetic scissor needs to enter the cell, and this is the most difficult aspect of the CRISPR/Cas technology.

The second method, iTOP, can help with this. Two substances are used in this method. The first substance, sodium chloride (or table salt), draws water from the cells, inducing a process called macropinocytosis. In this process, the cell takes up liquid from outside the cell, together with other molecules that are present in this liquid. If the molecules needed for the CRISPR/Cas technology are present in the liquid, they will also be taken up by the cell. The second substance in the iTOP mixture releases the CRISPR/Cas molecules into the cell, after which the genetic scissor can do its job, which in this case is cutting in the DUX4 gene to disable it.

Professor Niels Geijsen, who is affiliated with the Hubrecht Institute (KNAW) and the University of Utrecht, will investigate where exactly the DNA needs to be cut, in order to disable the DUX4 gene. He will do this with support from two foundations: Spieren voor Spieren and the FSHD Stichting. It will still take years of research before this method might become available for patients. Therefore, the donations that were raised during the SingelSwim Utrecht will be donated to the research of Niels Geijsen, to aim for the following ultimate goal: Injecting the CRISPR/Cas-iTOP combination in the muscles of patients with FSHD, to disable the DUX4 gene in these muscles.

We would like to thank all the participants and sponsors of the SingelSwim Utrecht!