Research on Huntington’s disease thanks to patients fund

Researcher at Utrecht University Stefan Rüdiger is receiving 250,000 euros for research on Huntington’s disease. The grant is exceptional because of its giver: a fund that is run by patients and enables fundamental research to understand and cure the disease. “Just imagine how many doorbells you will have to ring to acquire such an amount of money.”

Stefan Rüdiger

Huntington’s disease is caused by the aggregation of the protein huntingtin in our brains. Huntingtin plays a role during the embryonic phase. Carriers of the disease have a mutation in the gene that codes for this protein. Protein chemist at UU Stefan Rüdiger amplifies: “Normally, the huntingtin protein is broken down by the body, but in case of the mutation, that becomes more difficult at a certain moment in time, which is usually at the age of 35 to 45. The protein starts to aggregate and the disease will manifest itself. Patients experience uncontrolled movements and phychological deterioration. After 15 years, on average, they will die.”

Deadly protein aggregation (electron microscopic image). The Rüdiger group aims on mitigating the aggregation of proteins in Huntington's disease by natural chaperones. (Image: Laura van Bezouwen en Margreet Koopman, Bijvoet Center)

Quarter of a million

Now, the scientist is receiving a quarter of a million euros grant from Campaign Team Huntington, a private fund that has been raised by patients in 2015, to enable fundamental research on Huntington’s disease. The fund entirely depends on gifts. Rüdiger: ‘Behind Campaign Team Huntington is an admirable group of people. At this moment, they are perfectly healthy, but they know that there will be a time that they will not. They cannot escape, and at this moment, there is no cure. These people know that fundamental research is needed, so they want to make that financially possible. Just imagine how many doorbells you will have to ring to acquire such an amount of money.”

Recognize, mark and destroy particles

Rüdiger describes how his research project will contribute to finding that cure. “I am convinced that it is possible to develop a therapy against Huntington. It is crucial to understand how a healthy cell deal with aggregation, and then learn to apply this knowledge. Huntington’s disease is comparable to Parkinson’s and Alzheimer’s, both of which are also related to aggregation of proteins. For a short while now, we know that so-called chaperone proteins can mitigate the aggregation of proteins causing such diseases. It is our goal to find a way to recognize and mark huntingtin particles. After that, the body itself should be able to destroy those particles with the use of the chaperone proteins that are already present in the body.”