INFRAFRONTIER and Rare Diseases
According to the EU, a rare disease is defined as a disease afflicting fewer than one in 2000 individuals. It is estimated that 30 million people in Europe suffer from a rare disease. There are currently about 7000 rare diseases known with more being discovered continually (ref). The field of rare diseases suffers from a deficit of medical and scientific knowledge. They are also referred to ‘’orphan diseases’’ having been orphaned by the pharmaceutical industry because of small patient populations and consequently a smaller drug market. Scientifically, these diseases reside in the ‘unchartered space’ of biomedical research with their treatment marred by a dearth of medical and biochemical knowledge. Apart from being a huge emotional and financial burden to patients and their families, treatment of such rare diseases also significantly impacts public health care services and is plagued by several hidden costs. Angelis et al (2015).
This has led to development and implementation of several strategies to tackle the treatment of rare and debilitating diseases. For example, the EU supports research into rare diseases through Horizon 2020, the EU Framework Programme for Research and Innovation. Via Horizon 2020, about €900 million is available to more than 160 collaborative projects related to rare diseases.
INFRAFRONTIER is the European Research Infrastructure for phenotyping and archiving of model mammalian genomes. The core services of INFRAFRONTIER comprise the systemic phenotyping of mouse mutants in the participating mouse clinics, and the archiving and distribution of mouse mutant lines by the European Mouse Mutant Archive (EMMA). INFRAFRONTIER aids in rare disease research by providing access to over 2200 mouse strains (via EMMA) that are related to more than 1600 distinct rare diseases. These mouse strains carry mutations in genes that are implicated in causing rare diseases.
In addition, INFRAFRONTIER targets key rare disease communities mainly through the stakeholder meetings, to disseminate information about relevant resources and to obtain feedback about specific community requirements.
Find a list of rare diseases that are related to EMMA mouse strains here.
Find all publications about EMMA strains that are related to rare diseases here.
- The INFRAFRONTIER Stakeholder Meeting 2018 on rare disease research and gene therapy applications with animal models. Find more information on the conference here
- INFRAFRONTIER members were present at the RE(ACT) Congress 2019 in Toronto
- INFRAFRONTIER organised a workshop on Rare Diseases Data Integration at the ASHG 2019 in Houston
- INFRAFRONTIER was present at RE(ACT) Congress 2020 in Berlin with the INFRAFRONTIER Booth and a poster / talk
- INFRAFRONTIER was present at the ESHG Conference 2020 in Berlin with the INFRAFRONTIER Booth and a poster / talk
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)
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: https://resourcemap.ejprarediseases.org/#/
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 INFRAFRONTIERwebsite. 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 per cent 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.
This project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement N°82557.