We are committed to “un-rare” rare diseases by using our worldwide knowledge in the rare disease market, understanding the epidemiology, analyzing clinical heterogeneity of the more than 3800 diseases and developing innovative biomarkers.
The combination of genomics, proteomics and metabolomics provides deep insights in the pathogenesis of rare hereditary diseases. The value in such a holistic diagnostics process has resulted in the shift from pure data generation to deep knowledge, IT-based interpretation workflows in diagnostics.
Furthermore, the development of biomarkers is the central element to bring rationality to treatment decisions in rare disease patients. Only a detailed, science-based understanding of the genetic basis and the clinical phenotype of rare hereditary diseases will provide critical knowledge that will guide every stage of drug development.