Rare diseases are defined in Europe as diseases that afflict less than 1 in 2000 people. Although each rare disease is by definition rare, they together represent a large, heterogeneous group of approximately 6000 different diseases, which altogether afflict 350-400 million people worldwide and more than 30 million in Europe, and cause a major burden to human well-being and health systems.
As the symptoms of rare diseases are highly heterogeneous and their frequency is low, the proper diagnosis and treatment of these diseases is currently challenging. Indeed, it is estimated that over 90% of all rare diseases are currently without approved treatment. Furthermore, approximately 80% of rare diseases are genetic in origin, with many being caused by recessive genetic aberrations. However, the genetic basis of many of them is still poorly defined, making the investigation of their underlying pathogenic mechanisms difficult.
Because of these factors, many patients with rare diseases still lack accurate diagnosis and appropriate treatments with a negative impact on survival and on quality of life.
Such genetic rare diseases are the topic of RareBoost, which aims to establish IBG as a major hub for research, innovation and knowledge in rare diseases. To achieve this goal, we want to work closely with all interested groups to improve the lives of rare disease patients:
∙ Basic and clinical researchers and industry partners: IBG aims to find better and new diagnostic tools to greatly improve our understanding of the underlying mechanism or rare diseases to be able to devise novel therapeutic interventions. To this end, IBG is open for collaboration and interaction with all researchers working on all aspects of rare diseases.
∙ Patients and patient organisations: IBG plans to implement several ways to inform all patients and their families in a clear and understandable manner about the latest findings on rare diseases, their diagnosis and treatment.
∙ Media and government personnel: IBG wants to play its part in informing the general public about all aspects of rare disease and to improve the quality of life of rare disease patients. IBG is open to act as a contact and a source of information and recommendation for the public sector.