Of the 7000 distinct rare diseases, greater than 95% of them do not have a single clinically approved treatment. For many rare diseases basic knowledge, such as, cause of the disease, pathophysiology, semiology, natural course of the disease and epidemiological data is limited or worse, missing. This significantly hampers the ability to both diagnose and treat these diseases. Rare diseases also have a huge socio-economic burden on society due to the direct and indirect costs incurred by the patients and their families which in turn affects the health system.
The global rare disease market is fast approaching the USD 100 Billion mark and there are close to 600 orphan drugs in various stages of clinical development currently. Several academic groups, government organizations, patient support groups, and biotech and pharmaceutical companies are coming together to address the unmet needs of these rare diseases. With awareness of rare diseases and their biology increasing, novel therapies for previously incurable or untreatable diseases will be developed.