Patient-based Registry


Scope and Goal

RASopathies are a group of genetic diseases that arise from increased signalling down the cellular transduction pathway known as RAS. This pathway plays a crucial role in multiple developmental processes. RASopathies manifests themselves in a wide range of symptoms, including growth delay, cardiac defects, skin and musculoskeletal irregularities as well as neurocognitive impairments. Treatment options are available for physical, but less so for neurocognitive symptoms. Within EURAS, 16 partners from 8 countries join forces to bring a step change in the implementation of less-invasive treatments for patients, improve awareness as well as exchange – and provide patients and caregivers with new state-of-the-art knowledge and therapies.

To reach these goals, EURAS has set itself the following 7 objectives:

  1. Improve monitoring of disease and therapy outcomes through the implementation and exploitation of a PATient registry for RASopathies (PATRAS)
  2. Create and study new disease models to unravel the pathophysiology and variability of RASopathies
  3. Establish specific biomarkers for drug screening and for therapy validation
  4. Identify new potential drugs relevant to the field of neurodevelopmental RASopathies
  5. Develop novel non-invasive technologies for delivery of therapies to the brain
  6. Validate the efficacy of new therapies for neurodevelopmental RASopathies in preclinical treatment trials
  7. Raise awareness about neurodevelopmental RASopathies and facilitate exchange among affected families through a Europe-wide patient network.