Rare are many

On 29 February 2024, we are joining forces on Rare Disease Day, the international day of awareness for rare diseases and the people affected by them. The term "rare" can be misleading. 

According to the European Union Regulation on Orphan Medicinal Products (1999), a disease is considered rare if it affects no more than 5 in 10,000 people. What sounds like a small number at first, adds up in the masses. There are currently between 7,000 and 8,000 rare diseases listed. This means that about 7% of the world's population is affected. In Switzerland alone, the number of patients exceeds half a million, according to the FOPH. 

The contribution of R&D
The diversity of diseases and the lack of knowledge about them makes it difficult for patients to be diagnosed. For certain rare and serious diseases, corresponding tests are available for newborns. However, some rare diseases are only diagnosed much later - often after a long journey of suffering. Patients and their families often describe the time before a diagnosis is made as particularly difficult. Then only diagnostics allow for targeted therapy. 

At CSL Behring in Bern, research and development in the field of rare diseases focuses on the development of new tests for early diagnosis or the investigation of the effect of known substances in other therapeutic areas, as well as research into new potential substance candidates. At the same time, existing treatments are constantly being refined to make them as convenient and simple as possible for patients. 

In many regions of the world, pharmaceutical research and development for rare diseases is specifically supported by the pharmaceutical authorities. In addition, collaboration with the relevant centers and patient organizations leads to a better mutual understanding of needs and possibilities. For CSL Behring, for instance, the research site at sitem-insel, the Swiss Institute for Translational and Entrepreneurial Medicine, and the proximity to university clinics are of great benefit for this purpose.

Bern lights up for Rare Disease Day
Another very important factor is raising awareness. Specific solutions can only be developed if the public and all relevant stakeholders are aware of the issues related to rare diseases. For this reason, CSL Behring, together with its employees and partners such as BSC YB, SCB and "Thömus"will light up the Burgerspital in Bern with self-generated electricity on 29. February. In doing so, we will join the global chain of lights on this day of action and remind everyone that rare is many. 

This text was written in collaboration with the Translational Research Team Bern. A shortened version was published in BärnerBär on 27 February 2024.