Future of Rare Diseases Research

It is still a reality for rare disease patients to spend years in the health care system before an accurate diagnosis is made. Next-generation sequencing and improved data sharing have resulted in faster discovery of gene disease and thus diagnostics. However the rate of gene disease discovery is now slowing probably as a consequence of the likely complex origin of the remaining unsolved disease. To face this challenge, new methods in particular addressing non coding region of the genome will need to be developed. In addition, even if the rate of rare disease therapeutic development and approval has been increasing, 94% of  rare diseases still need an approved treatment. In addition, the number of untreatable uncommon diseases that have a first treatment approved remains low and even when a treatment is available, patients do not have always a ensured access to it. To face therapeutic discovery challenges, new approaches such as data-mining and repurposing and new models for funding drug discovery and covering treatment costs will be needed.

  • Patient access to diagnosis
  • International network for undiagnosed patients
  • Potential advancements in therapeutic development
  • Rare disease mechanism discovery

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