INFRAFRONTIER and Rare Diseases

Precise mouse models can be created using latest gene editing technologies to emulate rare human genetic diseases. Via EMMA, INFRAFRONTIER offers various mouse strains that are linked to 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 Supporting Rare Diseases Research

INFRAFRONTIER is the European Research Infrastructure for phenotyping and archiving of rodent models. 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.

INFRAFRONTIER Rare Diseases Resources

EMMA Strains and Rare Diseases

Search through a comprehensive list of 1600+ rare diseases that are related to EMMA strains.

EMMA Publications and Rare Diseases

Explore a host of publications about EMMA strains that are related to rare diseases.

Rare Diseases Projects and Collaborations

EJP RD – European Joint Programme on Rare Diseases

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

INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).