CureQ: predict, delay & cure polyglutamine (q) caused neurodegeneration

In the Netherlands, approximately 1 in 10,000 people suffer from the hereditary brain disorder known as Huntington’s disease. When a person has this disorder, their body makes involuntary movements. The disease has severe physical and mental effects and there is no cure. Besides Huntington’s disease, around ten other hereditary brain disorders are known. All of these are caused by the same DNA error.

Slowing the progression of disease

Recently, the first clinical studies aimed at the treatment of hereditary brain disorders were launched, and the results are promising. Some studies, for instance, show it may be possible to slow the progression of these diseases. Yet many important questions remain, such as: What is the best time to begin therapy? Can the onset of the disease be predicted, and do people really want to know that they carry the gene for the disease? Is it possible to offer treatment that does not involve an epidural or brain surgery? And how will such treatment impact very young patients?

Person-centred approach and treatment

In the CureQ project, physicians, ethicists, biotech companies and patients’ associations work together to answer these questions. The goal is to design a person-centred approach and treatment for Huntington’s disease and other hereditary brain disorders. The consortium hopes to achieve breakthroughs in new therapeutic strategies. For instance, to able to determine the age at which a disease becomes apparent, and in using cells taken from people carrying the gene to create lab-grown (in vitro) brain cell models to model the disease. The long-term goal is to arrive at person-centred treatments and to give hope to those carrying the gene and those at risk of developing the disease and to their families.

Predictive models

The results of the first experiments are expected to become available in autumn 2023. They will provide the starting point for the next phase: using machine learning technology to develop models that can predict the progression of the disease. Machine learning (ML) is a form of artificial intelligence (AI) that involves building systems that can ‘learn’ from processed data or apply that data to improve performance. Bart Baselmans, associate professor of Biomedical Technology at AUAS: ‘The predictive models enable us to identify patterns that will help us to better understand the progression of diseases like Huntington’s. These insights are crucial if we are to arrive at more effective, person-centred treatments that slow the progression of the disease.’

Education

As of September 2023, four fourth-year students in the Applied Mathematics programme at AUAS have been involved in developing the first machine-learning models. Their efforts focus mainly on creating the algorithms that make machine learning possible. They are also helping to connect the data produced by the various research centres affiliated with the project. Guest lectures will be held and information from the project is being used for data analysis purposes in the Biomedical Technology programme and the Data Science minor.

Partners

There are 13 partners in the CureQ consortium.

• Amsterdam Universitair Medisch Centrum (penvoerder)
• Erasmus MC
• Vrije Universiteit Amsterdam
• UMCG
• Maastricht UMC+
• Leiden Universitair Medisch Centrum
• Radboudumc
• Vereniging van Huntington
• Campagneteam Huntington
• ADCA/Ataxie Vereniging
• uniQure
• Vico
• Prinses Maxima Centrum
• Proefdiervrij
• Hogeschool van Amsterdam (Biomedische Technologie)

The consortium has a total budget of €5.5 million, €4.7 million of which is subsidies received from the Netherlands Organisation for Scientific Research (NWO). The remaining resources come from the Netherlands Brain Foundation.