Rare disease action plan published

Words by GOLD newsdesk

A first-of-its-kind action plan for rare diseases has been published by the Department of Health and Social Care in association with NHS England and NHS Improvement and the rare disease community.


Published to mark Rare Diseases Day (28 February), the Rare Diseases Action Plan sets out 16 commitments to further improve the care of the 3.5 million people in the UK living with rare diseases through research and investment. These commitments include £40 million of new funding for the National Institute for Health Research (NIHR) BioResource, to further their work in characterising and understanding rare diseases.


New technology and digital tools will support faster diagnosis, including a new research pilot using whole genome sequencing to screen for rare genetic conditions in healthy newborns; monitoring uptake of drugs for patients with rare diseases and ensuring equal access to treatment across the country; and improvements to virtual consultations to make it easier for patients to see multiple specialists at once.


The government will also continue investing in the development of nucleic acid therapies such as Gene Therapy Innovation Hubs and the Nucleic Acid Therapy Accelerator.


“Nearly 40% of the medicines now in development are for rare or very rare conditions, including many cell and gene therapies,” said Paul Catchpole, Director of Value and Access, Association of the British Pharmaceutical Industry, welcoming the action plan. “We would urge all action plan delivery partners to work together, with industry, to make these plans a reality.”


Nick Meade, Director of Policy of Genetic Alliance UK, added: “Rare Disease Day is great timing for this step forward. The delivery of this plan despite the challenges of the current environment shows the commitment of the delivery partners to make meaningful progress.”


The plan follows the UK Rare Diseases Framework, announced in 2021, which set out priorities for all four nations to speed up diagnosis, raise awareness and improve the treatment and care of rare diseases. The devolved administrations are due to publish their own action plans by the end of 2022.