Editorial: Equality, diversity and inclusive research for diverse rare disease communities

Abstract

Rare diseases affect< 5 per 10,000 individuals, based on the European Union’s definition (European Union, 2000). The Department of Health and Social Care (DHSC, 2021) published the UK Rare Diseases Framework, highlighting the government’s dedication to enhancing the lives of the 3.5 million individuals affected by rare conditions in the UK (Rare Disease UK, 2000). A new framework has been established across the United Kingdom with four key priorities. These priorities include helping patients receive a final diagnosis quickly, increasing rare disease awareness among healthcare professionals, better coordination of care, and improving access to specialist care, treatments, and drugs (DHSC, 2021). The implementation must incorporate five supporting themes: patient voice, national and international collaboration, pioneering research, digital, data, technology, and broader policy alignment.