Neurodevelopmental RASopathies
RASopathies are a group of diseases that impact physical and cognitive developments in the human body. While general manifestations of RASopathies are similar, there are important differences in symptoms between various mutations. As a result, the diagnosis of these diseases is often delayed and treatments do not meet the needs of individual patients. Moreover, unlike for the physical symptoms, where reasonable symptomatic treatment options are available, treatments for neurocognitive symptoms are still lacking.
The EURAS project
In 2021, the parent of a child affected by one of the neurodevelopmental RASopathies, started on a journey. His aim was to advance research, as he was unwilling to accept that there was no therapy available targeting his son’s neurocognitive symptoms. Together with the German patient organisation Syngap Elternhilfe e. V. he soon found supporters. From there, a network of 16 research and clinical teams from 8 countries arose. One year later, the EURAS team submitted the project application for a call within the European Union’s “Horizon Europe” research and innovation programme.
Since the very beginning, EURAS members share the goal to involve individuals with RASopathies and their caregivers into the research process. Creating bridges between researchers and the patient community, EURAS aims to foster research and help patients to receive accurate diagnosis and effective treatment options.
In December 2022, EURAS was selected for funding, sparking a moment of joy and hope for the families of those living with RASopathies. Now, the project is up and running. It will strive to achieve seven objectives within the next four years:
- Enhance tracking of disease and treatment effect by using a patient registry for RASopathies.
- Create models describing the causes and variations of RASopathies.
- Identify specific biomarkers to test new drugs and validate treatments.
- Discover new drugs relevant for the treatment of neurodevelopmental RASopathies.
- Develop novel technologies for delivery of therapies to the brain
- Validate the effectiveness of new treatments for neurodevelopmental RASopathies in preclinical treatment trials
- Raise awareness about neurodevelopmental RASopathies and facilitate exchange among affected families through a Europe-wide patient network.