Morning, Thursday, 16th April 2026
Online
This conference will consider next steps for rare diseases in England.
It will bring together key stakeholders and policymakers to examine the England Rare Diseases Action Plan for 2026, and priorities for policy as the UK Rare Diseases Framework expires in January 2027.
Delegates will discuss strategies for addressing persistent challenges such as the average diagnostic delay, inequities for ethnic minorities and deprived communities, and barriers to timely access to specialist care and treatments. Sessions will focus on approaches for inclusive co-design with patients and stakeholders, balancing faster innovation with robust evidence, equity, and sustainable funding models. Further discussion is expected on the development of a rare diseases NICE quality standard and what high-quality care looks like for diagnosing, managing and treating rare diseases.
Planned sessions will consider opportunities for improving outcomes for rare diseases with innovative research, individualised therapies, and clinical trial reform. Attendees will assess how these can best be implemented to accelerate diagnosis, strengthen care pathways, and reduce inequalities, while weighing stakeholder perspectives - including industry views on boosting medicine launches and investment incentives, alongside patient group emphasis on stronger implementation, coordination, and addressing access gaps.
Delegates will examine the MHRA’s proposals for reforming regulatory pathways for rare therapies, including streamlined licensing, adaptive trials, and flexible evidence requirements to support small patient populations. Discussion will focus on how best to accelerate access while maintaining safety, international alignment, and equity for underserved groups, alongside concerns around implementation timelines, evidence standards, rollout challenges, and ensuring benefits reach those most in need.
Further discussion will look at the UK Rare Diseases Framework beyond 2026, including continuity, co-development and opportunities for alignment with broader NHS reforms and the Life Sciences Sector Plan to build on progress in genomics, research, and care coordination while addressing ongoing gaps in equity and delivery.
Overview of areas for discussion
- policy and frameworks:
- implementing the Action Plan for 2026 - co-developing future policy beyond the UK Rare Diseases Framework
- strategies for four-nation coordination and meaningful patient and stakeholder input - alignment with the 10 Year Health Plan and Life Sciences Sector Plan
- diagnosis and genomics:
- ways to reduce the diagnostic odyssey through genomic testing and referral pathways - scaling genomic hubs
- building workforce capability in clinical genomics - advancing personalised medicine and regulatory approaches to improve access
- equity, patient voice and care coordination:
- tackling inequalities for ethnic minorities, deprived communities and underserved groups - strengthening care pathways and ensuring patient and carer involvement in policy and service design
- access to treatments and regulation:
- addressing delays in rare disease medicine launches and NICE appraisal challenges - implications of MHRA reform
- how best to implement streamlined licensing, adaptive trials, flexible evidence standards and n-of-1 approaches while balancing speed, safety and equity
- research, trials and innovation:
- role of the rare disease research platform in discovery, data ecosystems and equitable trial access so far - expanding clinical trial inclusivity and fostering international collaboration
- system enablers and accountability:
- workforce development, digital tools, shared records and transparent reporting - mental health support, specialised commissioning and equity metrics - NICE rare disease quality standard
