Assistant Director, Multi-Organisation Thematic Institute for Genetics
Genomics & Bioinformatics, INSERM, the French National Institute of
Health and Medical Research
A new European umbrella programme aims to get different stakeholders working together to accelerate the research, diagnosis and development of treatment for rare diseases.
“Close collaboration, joined-up thinking and knowledge-sharing. These are the best ways to improve research into rare diseases and so help clinicians achieve better outcomes for patients,” says Dr Daria Julkowska, Assistant Director of the Multi-Organisation Thematic Institute for Genetics, Genomics & Bioinformatics at INSERM, the French National Institute of Health and Medical Research.
Research in Europe was — and partially still is — fragmented; but efforts to make it more collaborative started around 20 years ago and are still ongoing. Now, a new European programme has been launched to build on previous achievements, pull the different strands together, scale them up and create a comprehensive environment. Called the European Joint Programme on Rare Diseases (EJP RD), it was launched in January and is a five-year initiative co-financed by the European Commission and EU member states, which brings together 130 institutions from 34 countries under one umbrella. DrJulkowska— who serves as EJP RD Coordinator — hopes the programme will be a turning point for European rare disease research. It certainly needs to be. As the European Commission notes, rare diseases “affect or will affect an estimated 30 million people in the European Union.”
Faster innovation through knowledge-sharing
“EJP RD is a programme that will be creating a European ecosystem to accelerate the research, diagnosis and development of treatment for rare diseases,” explains Dr Julkowska. “The idea is to bring together the majority of stakeholders — including research institutes, clinicians, university hospitals, funders and patients — to ensure the implementation of a comprehensive and cohesive research and innovation ‘bench to bedside’ pipeline.”This objective is very ambitious. It cannot be achieved unless all stakeholders work together.
Patients can sometimes wait 15 years to be diagnosed… We want them to receive diagnosis within one year of medical attention.
To operate effectively, EJP RD activities have been built on a number of ‘pillars’. These include the development of a virtual platform for rare disease information “encompassing research data, samples, tools and standards to support and accelerate rare diseases research”; and capacity building and empowerment to raise “the level of knowledge and know-how within the rare diseases research and care community.”
Diagnosis can take 15 years
EJP RD wants to strongly contribute to the three 10-year goals established by the IRDiRC (International Rare Diseases Research Consortium). “Firstly, patients suspected of having a rare disease can sometimes wait 15 years to be diagnosed,” says Dr Julkowska. “We want them to receive diagnosis within one year of medical attention. If no diagnosis is forthcoming, they should then enter a globally-coordinated diagnostic and research pipeline.”
1,000 new therapies for conditions with no current treatment
Secondly, the EJP RD aims to contribute to the goal of developing 1,000 new therapies for rare diseases, with a particular focus on those conditions where no therapeutic treatment is currently available. “This objective is very ambitious,” admits Dr Julkowska. “It cannot be achieved unless all stakeholders work together.” EJP RD also wants to play its part in the third IRDiRC objective: to develop methodologies that will measure the impact of diagnoses and therapies on rare disease patients.
For Dr Julkowska, one measure of success will be if EJP RD establishes itself as the first port of call for patients, clinicians or researchers looking for the most up-to-date rare disease information, tools and support. “They might want data to help set up a clinical trial or undertake a specific research project,” she says. “Whatever it is, they will be able to find all relevant information and support within our programme.”