#RareDiseasesDay: INFRAFRONTIER’s role in advancing rare disease research
Rare diseases affect 300M people worldwide. According to the EU, around 7,000 rare diseases have been identified to date, and many remain poorly understood due to scientific knowledge gaps and limited research resources. This lack of insight not only delays diagnosis for many patients but also hinders the development of effective treatments, leaving rare disease research an urgent and ongoing challenge.
However, understanding rare diseases is complicated given the large number of distinct rare disease conditions affecting each a relatively small patient population, as well as a lack of reliable disease models.
INFRAFRONTIER: Enabling rare diseases research through a shared infrastructure
To address these challenges and accelerate progress, INFRAFRONTIER provides a crucial research infrastructure to scientists around the world. As the European Research Infrastructure for Modelling Human Diseases, INFRAFRONTIER supports open access to state-of-the-art biological models, data resources, and expert services that help researchers investigate the genetic and biological bases of disease.
A key component of this support is the European Mouse Mutant Archive (EMMA), Europe’s largest non-profit repository for genetically modified mouse and rat models, and one of the largest globally. Through EMMA, INFRAFRONTIER offers over 2300 mouse strains related to over 1600 rare human diseases, providing a powerful tool for studying disease mechanisms.
Why do mouse models matter?
The vast majority of rare diseases have a genetic origin and are often caused by alterations in single genes. Therefore, mouse models are indispensable in biomedical research due to their genetic and physiological similarities to humans and the well-established technologies for genome editing and phenotyping. By introducing targeted mutations corresponding to human disease genes, researchers can observe how these changes affect physiology and behaviour, reveal underlying disease mechanisms, and test potential therapeutic strategies.
EMMA’s rich collection enables researchers to access mouse strains harbouring mutations in genes linked to specific rare diseases. While these strains are not necessarily established rare disease models, they may provide valuable tools for investigating disease mechanisms and can offer important opportunities for targeted research and discovery in a field where resources are limited.
Moreover, through the INFRAFRONTIER website researchers can also search and access a list of scientific publications using EMMA strains. Some of these strains carry mutations in genes associated with rare diseases. Such mutations may make them potentially relevant as rare disease models, however the associated publications are not necessarily focused on rare diseases.
The implications of this work go far beyond laboratory walls. By enabling researchers to explore disease biology with precision models and high-quality data, INFRAFRONTIER helps bridge critical knowledge gaps, leading to earlier diagnoses, deeper insight into disease pathways, and the potential to identify new therapeutic targets.
Supporting innovation and collaboration through European projects
Collaborative European programmes are key to strengthening the research ecosystem and widen access to resources. In particular, the European Joint Programme on Rare Diseases ( EJP RD) was a multi-partner initiative designed to create an integrated and sustainable platform for rare disease research in Europe. Through EJP RD, INFRAFRONTIER worked with other institutions to ensure research resources (including models, data and services) are findable, accessible, interoperable and reusable (FAIR).
Together, these efforts ensure that rare disease research continues to move forward, turning scientific discovery into tangible hope for millions of patients worldwide.