A rare disease is defined by its occurrence in a given population; in Europe less than 1 in 2,000 individuals are affected and in the USA, fewer than 200,000 individuals. It is estimated that there are over 7,000 distinct types of rare diseases, but to date, there are only around 400 approved treatments. The timely diagnosis and understanding of the underlying molecular mechanisms of rare diseases is hampered by limited patient populations, disease complexity and heterogeneity, and limited availability of natural history data. The discovery and development of robust biomarkers could address these unmet needs and provide meaningful endpoint measures in clinical trials for the evaluation of new therapeutic approaches. This special topic will focus on studies that investigate the use of predictive, diagnostic and prognostic biomarkers for a rare disease state.
A rare disease is defined by its occurrence in a given population; in Europe less than 1 in 2,000 individuals are affected and in the USA, fewer than 200,000 individuals. It is estimated that there are over 7,000 distinct types of rare diseases, but to date, there are only around 400 approved treatments. The timely diagnosis and understanding of the underlying molecular mechanisms of rare diseases is hampered by limited patient populations, disease complexity and heterogeneity, and limited availability of natural history data. The discovery and development of robust biomarkers could address these unmet needs and provide meaningful endpoint measures in clinical trials for the evaluation of new therapeutic approaches. This special topic will focus on studies that investigate the use of predictive, diagnostic and prognostic biomarkers for a rare disease state.