How does science conquer disease

Rare diseases

According to the definition valid in Europe, a disease is "rare" if no more than five out of 10,000 people suffer from it. Taken together, however, all rare diseases are by no means a rare phenomenon: There are over 6,000 rare diseases and several million patients are affected in Germany alone. Rare diseases are often very serious diseases that require extensive treatment and care. They burden the sick and their families and sometimes lead to death in childhood or adolescence.

The economic interest in developing drugs and effective treatments for rare diseases is very limited in individual cases due to the small number of patients. In addition, the few patients are spatially widely distributed and joint examinations in meaningful studies are therefore difficult to carry out. In addition, the clinical pictures are often very complex. They need to be researched and dealt with in an interdisciplinary manner. However, only a relatively small number of scientists research individual rare diseases.

Rare diseases are therefore not only important in terms of health policy, but also in terms of research policy. In addition, they can often serve as models for researching common and complex diseases. Rare diseases form a large group of very different clinical pictures. The principle of their cause is often the same: small defects in the genetic material. Rare diseases can affect almost all organs, often several at the same time.

If you understand their causes, you also understand the basic mechanisms that generally play a role in diseases. Since 2003, the Federal Ministry of Research has provided a total of 178 million euros for national and international associations to clarify important questions about rare diseases.

Coordinate research and care even better

At the national level, the Federal Ministry of Research has been promoting the formation of associations since 2003 that bring together capacities in research and supply. Because only together can rare diseases be identified better and at an early stage, systematically researched and the patients cared for competently. In eleven research associations that are currently being funded as part of the funding measure for translation-oriented collaborative projects in the field of rare diseases, scientists are working to uncover the causes of diseases and to develop new diagnostic procedures and treatment methods. In principle, the research results should be able to enter treatment more quickly in the future. The Federal Ministry of Research has provided 107 million euros for the national joint projects since 2003. With the "Guideline for the Funding of Translation-Oriented Collaborative Projects in the Field of Rare Diseases" published in February 2018, the ministry is funding the national collaborative projects from 2019 to 2022 with a further 34 million euros. Rare diseases are also researched in other funding priorities of the Federal Ministry of Research, for example in the context of clinical studies or various international measures.

International cooperation

In the case of numerous rare diseases, however, it is not enough just to bundle national capacities. The number of patients in a single country - often only a few hundred people - is too low for meaningful scientific research. In addition, most rare diseases are complex and require a large amount of research that individual working groups can hardly handle. That is why international cooperation is an important key to success. It bundles forces for the solution of important research questions and distributes material, financial and human resources on many shoulders. Therefore, the German associations for rare diseases also make a contribution to the International Research Consortium for Rare Diseases, the "International Rare Diseases Research Consortium", or IRDiRC for short. The consortium was founded by the EU Commission and the US National Institute of Health. More than 50 international partners - including research funders such as the BMBF, patient associations and industrial partners - are involved. IRDIRC sets important goals for research into rare diseases and defines binding, quality-assuring standards for research into rare diseases.

The Federal Ministry of Research also took part in the European "E-Rare" initiative. It has made a significant contribution to better coordinating the activities of the national research funding organizations. 23 European and non-European research funders from 17 countries took part in "E-Rare". In the process, information on research into rare diseases was collected in the various countries, strategically coordinated with the participating countries and, finally, cross-border international research projects were funded. Ten joint funding measures were successfully carried out in this context. The Federal Ministry of Research contributed 32.3 million euros. This cooperation has been continued and expanded within the European Joint Program on Rare Diseases (EJP RD) since 2019. A first new announcement as part of the EJP RD was published in January 2019. From this, 22 projects are funded with € 30.5 million, to which the BMBF is contributing € 3.6 million. The second notice of the EJP RD was published in January 2020. Here, 18 projects will be funded with around € 24 million.

National action alliance helps

The National Action Alliance for People with Rare Diseases (NAMSE) is a joint initiative of the federal government and self-help organizations. The Federal Ministry of Health, the Federal Ministry of Education and Research and the Alliance of Chronic Rare Diseases, ACHSE for short, launched the action alliance in 2010. It is supported by many alliance partners from the healthcare sector. A national action plan was jointly drawn up and published in August 2013. It shows possible solutions for the problems of those affected and their relatives. The overriding goal is to better inform both those providing treatment and those receiving treatment. The medical care structures are to be expanded and competencies are to be bundled. Research should also be improved.