Patient-based Registry

Approach and Objectives Patient-driven science for rare neurodevelopmental RASopathies

Why EURAS Exists

RASopathies are a group of rare genetic conditions caused by disruptions in the RAS signalling pathway that helps cells grow, divide, and communicate. When this pathway overactivates, it can lead to developmental disorders affecting the brain, heart, skin, and growth.

While physical symptoms can often be managed, the neurocognitive and behavioural challenges remain untreated. Families face enormous daily burdens with few therapeutic options or clinical guidance.

EURAS was created to change that.

What began as an initiative by parents of children with RASopathies has grown into a European alliance of 14 partners across 8 countries, combining clinical research, bioinformatics, disease modeling, development of new methods for drug delivery to the brain, and patient engagement to transform care for these rare diseases.

The EURAS project focuses on four RASopathies that cause mild to severe cognitive and behavioural symptoms:

SYNGAP1 encephalopathy (SYNGAP1)
Cardio-facio-cutaneous syndrome (CFC)
Costello syndrome (CS)
Noonan syndrome (NS)
In addition, we also collect data on Neurofibromatosis type 1 (NF1).

A Collaborative Approach

EURAS brings together scientists, clinicians, and families in a shared effort to translate biological insights into real therapies.

Our approach builds on three connected pillars:

  1. Understanding Disease Mechanisms Using human stem cells and animal models with disease mutations, EURAS researchers develop disease models and study how RASopathies alter brain development, synaptic communication, and cellular signaling
  2. Developing New Therapies We identify and test potential treatments, from repurposed drugs to antisense oligonucleotides, and explore non-invasive drug delivery technologies that reach the brain more effectively.
  3. Empowering Patients and Families The PATRAS registry collects patient-reported outcomes and clinical data, creating one of the most comprehensive European datasets for neurodevelopmental RASopathies. This unique collaboration improves disease monitoring, cohort stratification, and therapy evaluation making families an essential part of the scientific process.

Our Seven Core Objectives

  1. Improve monitoring of disease and therapy outcomes through the PATRAS registry.
  2. Create and study new disease models to understand disease variability and mechanisms.
  3. Establish specific biomarkers for drug screening and therapy validation.
  4. Identify new potential drugs relevant to the field of neurodevelopmental RASopathies.
  5. Develop novel, non-invasive technologies for drug delivery to the brain.
  6. Validate the efficacy of new therapies through preclinical proof-of-concept trials.
  7. Raise awareness and strengthen collaboration through a Europe-wide patient network.

Our Vision EURAS bridges science and solidarity turning patient insights into innovation and hope.

By building shared knowledge, improving diagnosis, and developing new treatments, EURAS aims to deliver lasting impact for patients, caregivers, and clinicians across Europe.