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Rare Diseases Action Plan set to benefit millions

Health and Social Care Secretary, Sajid Javid has announced England’s first Rare Diseases Action Plan which will help millions with rare diseases to receive quick diagnosis and new treatments.

The plan consists of 16 new commitments which will improve overall care for those affected by rare diseases.

It comes as a collaboration between NHS England, NHS Improvement, NICE, Genomics England, NIHR, NHS Digital and the Medical Research Council.

An estimated 3.5 million people in the UK suffer from one of over 7,000 rare diseases.

Minister for Patient Safety and Primary Care, Maria Caulfield said: “People with rare diseases deserve the best care and treatment. Marking Rare Disease Day 2022 by publishing England’s first Rare Diseases Action Plan is a significant step in supporting people with rare diseases to access even better coordinated care and treatment.

“We have listened carefully to people living with rare diseases to make sure their needs and priorities are placed at the heart of this plan. We will continue to work closely with the rare disease community over the coming year to develop this even further.”

Rare diseases, often of a complex nature, can be hard for healthcare professionals to detect and treat accordingly, therefore making it difficult to provide patients with access to relevant specialists.

New funding of £40 million will be given to the National Institute for Health Research BioResource to help advance understanding around the characteristics of rare diseases.

Professor Lucy Chappell, Chief Executive of the National Institute for Health Research said: “Around one in 17 people will develop a rare disease at some point in their lives, so while they are individually rare, cumulatively these diseases affect a substantial proportion of the population. The impacts on these individuals and their families are wide-ranging. Our research needs to continue to address early diagnosis, effective treatments and supporting them to live well with their conditions.

“The work of the NIHR’s BioResource has already helped produce some truly ground-breaking discoveries, such as those made through the 100,000 Genomes Project, and today’s significant new investment will ensure it remains at the cutting edge of the fight to understand rare diseases, and help the people who have them.”

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.”

These actions include:

  • Improvements to newborn screening so diagnoses can be made earlier.
  • A new digital tool called ‘GeNotes’, which will allow healthcare professionals to quickly access information on rare diseases.
  • Developing a toolkit for virtual consultations to increase the effectiveness of videoconference and telephone clinic calls.
  • Supporting access to new treatments through new programmes like the Innovative Medicines Fund.
  • Monitoring uptake of drugs for patients with rare diseases.
  • Pilot new approaches to care for patients with undiagnosed rare conditions.
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