We are delighted that the Heterotaxy Foundation have joined the Ciliopathy Alliance and we look forward to working with them.
Heterotaxy is a congenital condition, thought to be caused by the rotation of cilia in the developing embryo, that disrupts the normal left-right asymmetry of the body. This can result in any of the internal organs being misplaced, malformed, multiplied, or missing entirely. This disruption in asymmetry ensures that no two cases of heterotaxy are exactly alike.The cause of heterotaxy is not fully understood; some genetic links are being explored, but not all cases have been found to have a genetic cause, so research is still needed. Individuals with heterotaxy require lifelong multidisciplinary care and medical monitoring.
Ciliopathy Alliance Trustees, Elizabeth Forsythe and Kerry Leeson-Beevers, attended the Westminster Rare Disease Day reception at the House of Commons on Tuesday, 24th February 2026. The theme of Rare Disease Day 2026 is Equity, and it was clear from listening to the excellent speakers Alison and Sophie, that much more needs to be done to make things more equitable for people living with rare conditions. A huge thank you to Genetic Alliance UK for organising such a fabulous event and for highlighting lived experiences in their Rare Disease Day 2026 report'Equity for rare: Delivering fairer healthcare systems for people with rare conditions’
Minister Ashley Dalton announced the publication of the 2026 England Rare Disease Action Plan that has now been published and can be found here England Rare Diseases Action Plan 2026 - GOV.UK
Sue Farrington also shared information about the development of The NICE Quality Standards for Rare Conditions. A very big thank you to Sue and members of the wider rare disease community for their excellent leadership on this great work. NICE Quality Standard for Rare Diseases
Our next AGM will be held online on Friday, 2nd October 2026 from 14:30 to 16:00 (GMT) with guest speaker Professor John Sayer talking about the latest innovations in renal ciliopathy research.
Agenda:-
- Apologies for absence.
- To approve the minutes of the 14th Annual General Meeting held on 21st October 2025.
- To receive the Board’s Accounts for the period 1 April 2025 to 31 March 2026
- Chair’s Annual Report.
- Approve any new members and trustees.
An opportunity to ask any questions will be available at the end of the meeting.
Members are able to vote on proceedings. Non-members also welcome.
If you would like to join us then please register here.
On Friday, 26th September we hosted the 3rd Webinar on Skeletal Ciliopathies, Genetic Diagnosis, and Support Groups.
Rhoda Akilapa, Consultant in Clinical Genetics at Guy's and St Thomas' NHS Foundation Trust gave an insightful presentation on skeletal ciliopathies and how they are diagnosed. Matthew Carr, Special Projects Manager from Retina UK told us about the work of the charity who are celebrating their 50th Anniversary this year and the role of support groups in supporting patients after a genetic diagnosis. Fiona Copeland finished the meeting discussing how the Ciliopathy Alliance can support patients where there are no established support groups.
To watch the webinar click here
This year, we were delighted to welcome a group of talented interns from Keele University to the Ciliopathy Alliance UK. As part of their course, each student completed 75 hours of work with us over four months — and what they achieved in that short time has been remarkable.