The University of Barcelona is promoting an innovative project for the early detection of Huntington’s disease
Huntington’s disease is a neurological disease caused by a mutation in the Huntingtin (HTT) gene that leads to motor, cognitive and psychiatric disorders. It is a severe disorder that affects approximately 10 out of every 100,000 people in Europe and so far has no cure or effective treatments to slow its progression. Moreover, there are currently no biomarkers sensitive enough to detect biological changes before the first clinical symptoms of the disease appear.
In this context, the University of Barcelona (UB), through the Bosch i Gimpera Foundation (FBG) and with the support of Banco Santander, has awarded a Proof of Concept grant of 25,000 euros to the project ‘Small RNA biomarkers validation for Huntington’s Disease’, led by Dr. Eulàlia Martí and Dr. Ana Gámez, from the Faculty of Medicine and Health Sciences of the UB.
The UB-led project is a pioneering research project that could transform Huntington’s disease monitoring and medical decision-making using small RNA (sRNA) biomarkers. Specifically, the project is based on the identification of sRNAs present in extracellular vesicles in blood plasma. These biomarkers have been detected in patients with mutation in the HTT gene before the appearance of the first motor symptoms and have shown a relationship with the first cognitive changes.
According to Dr. Eulàlia Martí and Dr. Ana Gámez, neurodegenerative diseases ‘have a very prolonged silent phase in which patients lead an apparently normal life, but the biological process of degeneration has already begun, although it does not yet show obvious symptoms. If we can understand these biological changes prior to the appearance of the first clinical symptoms, we will be able to offer more appropriate and personalised support. This would allow early decisions and actions to be taken, including non-pharmacological therapies and lifestyle adjustments, as well as informing the patient about what is happening in his or her organism.
An urgent challenge in disease detection
The next step in the project is to validate the sRNA biomarkers and study their presence in different cohorts of patients with the HTT mutation, in order to assess their potential as indicators of early disease progression. Therefore, a multicentre validation will be carried out in different hospitals in Spain.
The aim is also to optimise a PCR-based test for the rapid and accurate detection of these biomarkers, facilitating their clinical application. The early identification of the first molecular changes would improve the quality of life of patients and facilitate the development of preventive treatments.
‘The next step to advance the project is to develop a diagnostic kit. It’s not just about generating knowledge, but about having a real impact on people. In addition, our advances could be applied to other diseases such as Alzheimer’s and Parkinson’s disease. Although rare diseases often receive less attention, this research motivates us to move forward, knowing that our protocol could benefit many more people,’ stress the researchers.