Fiona Copeland, as ex-chair of PCD Support Group UK,attended their Medical Board Meeting on Friday, 19th May 2023 in London. Over 70 healthcare professionals met from across the UK to discuss the 'Clinical Priorities in PCD'. We learned about the latest physiotherapy studies using MRI Scanning, as well as a study looking at nighttime coughs and a study comparing nasal inflammation in people with PCD, CF and healthy controls. We also learnt all about the latest updates in genetic research, diagnostics, and clinical management of patients. This great illustration captures the talks of the day.
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
The Ciliopathy Alliance had a great afternoon at the Houses of Parliament as guests of Rare Disease UK where Andrew Stephenson (Minister for Health and Secondary Care) launched the governments plan to continue supporting patients with Rare Diseases. The standout points were the piloting of Syndromes Without a Name clinics for people with rare undiagnosed conditions and the 'Generation Study' where newborn babies witll be screended for rare diseases.
It was also a great opportunity for us to catch up with old friends and colleagues from the Rare Disease community.
On Friday, 20th June 2025 - some of our Trustees attended the UK Cilia and Centrosome Network Meeting which was hosted by Hannah Mitchison our Chair. Thanks to Kerry Leeson-Beavers for updating the group about the CAUK's strategy.
It was Temi's first Cilia Scientific Meeting (as Treasurer of the Ciliopathy Alliance UK) - here are her reflections:-
Earlier this month, I had the opportunity to attend the UK Cilia & Centrosome Network Conference. As someone with a background in biochemistry and a professional focus on digital and AI transformation, I found the conference both intellectually stimulating and deeply affirming.
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.
The Ciliopathy Alliance Scientific Advisory Board is composed of researchers and doctors involved or interested in ciliopathy research and treatment of patients with ciliopathies.
A Spotlight on our Chair, Hannah Mitchison: “We can’t do this without patients”
From a childhood spent next door to a medical research institute to three decades at the forefront of ciliopathy research, she reflects on science, advocacy and why progress depends on listening to those living with rare disease.
Hannah Mitchison grew up with science so close to home that it barely announced itself as anything special. Born in north London, she spent her early years living next door to her father’s workplace, a medical research institute in Mill Hill. There was a small garden gate between the family house and the laboratory. “He would just walk to work,” she recalls. “So, my dad was a complete scientist, and he kept going till he was in his eighties."
After a long hiatus, the UK Cilia NetworkAutumn meeting returned to an in-person format in Edinburgh. Cilia researchers from around the UK and even Denmark, Germany and Spain gathered to share the latest in cilia science. The meeting organised by Prof. Pleasantine Mill(University of Edinburgh) and Dr. Girish Mali (University of Oxford) was an excellent showcase of the breadth of cilia research currently going on in the UK and Europe, as well as the interdisciplinary nature of cilia research.
Royal Society Publishing has recently published a special issue of Philosophical Transactions B entitled Unity and diversity of cilia in locomotion and transport, a Theo Murphy meeting issue compiled and edited by Kirsty Y Wan and Gáspár Jékely.
Please join us for our first webinar to learn about:-
- Cilia and how it affects the human body
- An exciting new project (PREDICT) which will help diagnose people earlier with ciliopathies.
Register here and you will receive an email containing information on how to join the meeting.
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