The vision for collaborative progress in European rare disease research
Although individually rare, taken together, rare diseases affect at least 20 million people in Europe, representing a major issue in healthcare. Research to tackle rare diseases can be fragmented, so innovative efforts to increase collaboration and coordination are vital if we are to advance our understanding and develop new diagnostics and therapies.
The EU has a strong commitment to rare disease research to improve the lives of patients. I’ve seen this over the course of my work managing several projects part-funded within their drive to address rare disease in Europe. I manage VISION DMD, an important collaborative project for Duchenne Muscular Dystrophy (DMD). It’s part of a portfolio of projects funded by the EU. This project adopted a venture philanthropy model that has been a crucial element in the project successfully completing a clinical trial for a new steroid-like drug for DMD called vamorolone.
As rare diseases individually affect fewer people, it’s especially crucial to bring people, policy and funding thinking together across countries. So when I recently had the opportunity to talk to Dr. Daria Julkowska, Scientific Coordinator of the European Joint Program on Rare Diseases (EJP RD), I jumped at the chance. Since its launch in 2019, the EJP RD has been critical to reducing fragmentation and accelerating research collaborations. It is creating a comprehensive, sustainable ecosystem, allowing a virtuous circle between research, care and medical innovation, and pools resources at national and European level at a scale never achieved before.
Dr. Julkowska is an innovative leader in the EU rare disease landscape, having recently won the Black Pearl European Rare Disease Leadership Award. Her team has pulled together research funders, universities, research organisations and infrastructures, hospitals and patient organisations from more than 135 institutions in 35 countries.
We spoke about the challenges and successes of coordinating across vast networks, diverse stakeholder groups and through layers of EU infrastructure. We touched on the role of data-sharing to drive progress, and on the particular dedication of the rare disease community. Of course, we also spoke about why this work is so important – to drive the participation and influence of patient groups, and ultimately get the science out of the lab and into real life, where it can save and improve lives.
Ultimately, she told me: "our goal is that diagnosis, care and treatment should all be available within one year of a rare disease patient coming to medical attention – and we hope to achieve this by 2027”.