European Joint Programme on Rare Diseases

The European Joint Programme on Rare Diseases (EJP RD) is a programme aiming to create an effective rare diseases research ecosystem for progress, innovation and for the benefit of everyone with a rare disease.

INFRAFRONTIER’s Contribution to EJP RD

INFRAFRONTIER is a member of the   European Joint Programme on Rare Diseases (EJP RD) that brings over 130 institutions from 35 countries to create a comprehensive, sustainable ecosystem allowing a virtuous circle between research, care and medical innovation. The members include:
-*27 EU Member States (Austria, Belgium, Bulgaria, Czech Republic, Denmark, Estonia, Finland, France, Germany, Greece, Hungary, Croatia, Ireland, Italy, Netherlands, Latvia, Lithuania, Luxembourg, Malta, Poland, Portugal, Romania, Spain, Sweden, Slovakia, Slovenia, United Kingdom)

  • 7 associated (Armenia, Georgia, Israel, Norway, Serbia, Switzerland, Turkey)
  • Canada 

The  EJP RD’s Resource Finder is an interactive mindmap that helps scientific partners to find their way through the vast number of existing research data and services:


The different resources are grouped into categories and represented as 11 ‘nodes’ in the mindmap. Under “ANIMAL MODELS AND CELL LINES”, users find the direct link to the INFRAFRONTIER website. As the European Research Infrastructure for generating, phenotyping and archiving genetically modified mouse and rat models, INFRAFRONTIER is ideally suited to support EJP RD’s scientific community with these advanced tools. Around 80% of rare diseases are based on genetic causes. Therefore, functional genetics research is a crucial resource for developing innovative treatment and prevention methods for many rare diseases. 

EJP RD organised during 2021 a series of webinars to showcase the different resources involved in the programme. In the INFRAFRONTIER webinar participants were given an overview of INFRAFRONTIER and EMMA and what we can offer to rare disease researchers. This included live demos on searching for mouse models for a certain rare disease and placing an online order, submitting a mouse strain to EMMA for cryopreservation or looking for available phenotype information for a certain mouse strain.