Eurice Expands Portfolio of Patient-Centred Health Projects with New EU Project EURAS on Rare Neurodevelopmental RASopathies
RASopathies are a group of genetic diseases that arise from increased signalling down the cellular transduction pathway known as RAS, which plays a crucial role in multiple developmental processes. These conditions, with Neurofibromatosis 1 (NF1) and Noonan syndrome (NS) being the most common, can manifest with a wide range of symptoms, including specific facial features, heart defects, skin changes, and varying degrees of neurological and neurocognitive impairment. The rarer forms of RASopathies, namely Cardio-facio-cutaneous syndrome (CFC), Costello syndrome (CS), and SYNGAP1-related encephalopathy (SYNGAP1), cause significant neurological impairments, such as intellectual disability, seizures, epilepsy, autism spectrum disorder, challenging behaviour, and sleeping disorders. While the physical manifestations of RASopathies can be life-threatening, they can be reasonably manageable by multidisciplinary symptomatic treatment. However, there is currently no disease-specific therapy for the neurocognitive symptoms, which imposes a permanent high burden on the patients, mostly children, and their families.
The newly launched collaborative research project EURAS promises to make a fundamental contribution to changing the status quo. Initiated by the German patient organisation Syngap Elternhilfe e. V., Germany, EURAS aims to gain a deeper understanding of the underlying disease mechanisms, create a framework for improved diagnosis, and develop effective treatments for neurodevelopmental RASopathies.
"EURAS is a project started by families for families, and we are excited to be on board with a project where their needs are at the core of all activities. By bringing together patient organisations and leading research institutions, the consortium will not only improve the lives of RASopathy patients and their caregivers but also strengthen European and global health systems," asserts Dr Chiara Lonoce, Research and Innovation Manager at Eurice. "With EURAS, we are expanding an outstanding portfolio of patient-centred health projects, while also making an important addition to our rare disease programme, which includes endeavours such as Screen4Care."
EURAS is coordinated by the Universitätsklinikum Erlangen, Germany, and will be funded with over EUR 8 million from the European Union’s Horizon Europe Framework Programme for Research and Innovation over the next four years. The Associated Partner the University of Edinburgh received funding from UKRI Innovate UK.