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Rare Disease


If you have a rare disease and are without a genetic diagnosis then you could be eligible for the 100,000 Genomes Project.

For rare diseases you are eligible to take part if:

  • You do NOT already have a genetic diagnosis for your condition and
  • You have one of the rare diseases listed in the eligibility criteria

So far there are over 190 rare diseases are included in the project with plans to expand that number as more genetic diseases are recommended.

For more advice on whether your condition is eligible for the project contact your consultant.