Government launches first Rare Diseases Action Plan

Millions of people with rare diseases will benefit from faster diagnosis and new treatments following the launch of England’s first Rare Diseases Action Plan.

There are more than 7,000 rare diseases, affecting an estimated 3.5 million people in the UK. Their complex nature means it is difficult for healthcare professionals to receive training on every condition or for patients to access the relevant specialist.

The action plan includes 16 commitments to further improve care and has been developed in partnership with NHS England and NHS Improvement, the National Institute for Health and Care Excellence, Health Education England, Genomics England, the National Institute for Health Research, NHS Digital and the Medical Research Council. It includes commitments on research, including an announcement of £40 million of new funding to the National Institute for Health Research (NIHR) BioResource, to further their work in characterising and understanding rare diseases.

The Action Plan will also help increase the ability to spot genetic conditions during the screening of newborn babies, as well as see a new digital tool called ‘GeNotes’ launch, which will allow healthcare professionals to quickly access information on rare diseases to improve diagnosis so they can provide the right care for their patients.

Health and Social Care Secretary Sajid Javid said: “This action plan will speed up diagnoses and care and allow our fantastic workforce to better support patients, by drawing upon the UK’s world-leading science and technology. I am committed to levelling up our health system so that everyone regardless of their condition can receive treatment that is tailored to their needs.”