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.