Update from Future for Rare Disease Workshop - June 2026

Thank you to everyone who took part in the Future for Rare workshop that was organised by the Ciliopathy Alliance in partnership with Genetic Alliance UK. The purpose of the workshop was to gather perspectives from the Ciliopathy community on the UK Rare Diseases Framework as it approaches the end of its current policy period. The meeting focused on discussing the four key priorities and five underpinning themes from the current framework:

Priorities

1. Helping patients get a final diagnosis faster,

2. Increasing awareness of rare diseases among healthcare professionals,

3. Better coordination of care,

4. Improving access to specialist care treatments and drugs.

Underpinning themes

1. Patient voice

2. National and international collaboration

3. Pioneering research

4. Digital, data and technology

5. Wider policy alignment

England also added ‘equity' as an additional underpinning theme.

Discussions were centred around the following questions:

- Are the current priorities and underlying themes correct? What are the most important gaps or needs that are not covered?

- What are the biggest challenges you face because of your rare condition? What are the top five most important challenges?

- Are there solutions that can help overcome the challenges we have identified?

Workshop participants included patients, parents, carers, charity representatives and researchers with experience of various ciliopathy conditions including Bardet Biedl Syndrome (BBS), Primary Ciliary Dyskinesia (PCD), Retinitis Pigmentosa (RP), Alström Syndrome (AS), Usher Syndrome and Nephronophthisis (NPHP). People shared their experiences and identified significant challenges including financial pressures on families, limited access to specialist care, social isolation, the need for better coordination between services, and difficulties with clinical trials for rare conditions.

The group discussed solutions such as creating patient databases for clinical trials, improving coordination between different services, providing better support for patient organisations, and ensuring equitable access to care across different regions.

These workshops formed part of a wider campaign coordinated by Genetic Alliance UK. Further information was gathered through a stakeholder survey and a call for evidence. This information led to the creation of 11 working groups covering 11 key themes. Ciliopathy Alliance Trustee Kerry Leeson-Beevers was the co-chair of the Care Coordination working group.

The findings from the Future for Rare campaign were collated by Genetic Alliance UK and presented in a report to health ministers in November 2026. These findings form part of the UK governments consultation to help inform decisions regarding future rare disease policy. The report can be found here Future for Rare campaign - Genetic Alliance UK along with further information about the campaign including ways people can help by sharing the report with parliamentarians.

Thank you again for making sure the views of the Ciliopathy Alliance community were included within the campaign.