Implementation of the UK Rare Diseases Framework

In January 2021, the Department of Health and Social Care (DHSC) published the UK Rare Diseases Framework which set out a ‘community-led vision to build upon existing UK strengths and improve areas of weakness to deliver better health outcomes and improve the lives of those living with rare diseases’.[1] The Framework follows on from a 2013 strategy which was due to end in 2020.

The Framework defines a rare disease as a condition which affects less than 1 in 2,000 people and covers over 7,000 rare diseases.[2] Whilst 80% of rare diseases have an identified genetic origin, other causes include disordered immunity, infections, allergies, deterioration of body tissues and organs or disruption to development while in the womb.[3]

Rare diseases are individually rare but can affect up to 1 in 17 people at some point in their lifetime, amounting to over 3.5 million people in the UK.[4]

Rare diseases can be life-limiting and life-threatening and disproportionately affect children. 75% of rare diseases affect children and more than 30% of children with a rare disease die before their fifth birthday.[5]

Following the Framework’s publication, the four UK nations are now set to develop action plans which will set out how the Framework’s priorities will be addressed in each respective nation, taking into account the Framework’s priorities and themes. Where possible, each nation will publish the action plans in 2021.

[1]     DHSC, UK Rare Diseases Framework, 9 Jan 2021

[2]     DHSC, UK Rare Diseases Framework, 9 Jan 2021

[3]     DHSC, UK Rare Diseases Framework, 9 Jan 2021

[4]     DHSC, UK Rare Diseases Framework, 9 Jan 2021

[5]     DHSC, UK Rare Diseases Framework, 9 Jan 2021