We held our first Webinar on 11th November 2023 via Zoom - videos of the presentations can be found here:-
- Cilia and the role they play in the human body from Amelia Shoemark
- Bendert De Graaf'spersonal story and about the BBS Group in the Nederlands and about Project Predict
- Plans for the Ciliopathy Alliance UK over the next few years by Fiona Copeland, Trustee of the Ciliopathy Alliance
Our next webinar is planned for May 2024 - please let us know if there are any specific subjects you would like us to cover.
Have you signed up for the Gordon Conference yet?February 14 - 19, 2027 in Lucca, Italy.
The Cilia, Mucus and Mucociliary Interactions GRC is a premier, international scientific conference focused on advancing the frontiers of science through the presentation of cutting-edge and unpublished research, prioritizing time for discussion after each talk and fostering informal interactions among scientists of all career stages. The conference program includes an array of speakers and discussion leaders from institutions and organizations worldwide, concentrating on the latest developments in the field. The conference is five days long and held in a remote location to increase the sense of camaraderie and create scientific communities, with lasting collaborations and friendships. In addition to premier talks, the conference has designated time for poster sessions from individuals of all career stages, and afternoon free time and communal meals allow for informal networking opportunities with leaders in the field.
This GRC will focus on recent developments related to the biology of cilia and mucus in health and disease and emerging novel therapies targeting mucociliary dysfunction.
Sign up here
We held our AGM on Tuesday, 21st October 2025 online.
It was a great oppportunity to welcome our two new Trustees, Audrey Hughes and Rhoda Akilapa. We also spent some time discussing the work we are planning this year.
To read our annual report click here.
To read the minutes of the AGM click here.
Any queries then please contact us.
Alström Syndrome UK is pleased to join Genetic Alliance UK’s Future for Rare Steering Group. Together, we are taking a leading role in shaping the future of rare conditions policy in the UK.
The Future for Rare survey is designed to capture a comprehensive picture of the current experiences and priorities of the genetic, rare and undiagnosed community across the UK.
We welcome views from everyone, whether you are living with a genetic, rare and undiagnosed condition, caring for a loved one, or working for a support organisation, as a researcher or a healthcare professional. Every perspective is valued equally and will directly inform our recommendations to all four governments.
Share your experiences via the Future for Rare survey.
Please submit your response by Friday 24 April 2026.
For more information on how this information will inform the campaign, please visit the Future for Rare webpage.
At a satellite of the 2022 European Respiratory Society (ERS) annual meeting in Barcelona, a joint meeting of the ERS-sponsored BEAT-PCD Clinical Research Consortium and the European Reference Network ERN-LUNG was held on 03/09/22, to engage clinicians, researchers and patient advocacy representatives in a first face to face meeting together since the pandemic.
Cilia2024 (hybrid) is the 6th running of the biennial European Cilia research meeting, taking place on September 10-13 in Dublin, Ireland. As the world’s largest scientific meeting for cilia and flagella research, Cilia2024 will bring together cilia researchers, clinicians, patients and patient representatives from across the globe, partaking in a wide ranging programme incorporating 11 scientific sessions, 4 keynote lectures, 35+ oral presentations, 22 flash talks and 3 poster sessions. Cilia2024 will also provide an elevated forum for patient-scientist-pharma exchange via a specific Patient Event on Sept 09 and 10. We do hope you will join us!
Registration for Researchers and Clinicians
Registration for Patients and Carers
We held a patient meeting ahead of the main meeting and a number of clinicians and researches were invited to join our 'World Cafe'. This gave us the opportunity to work together on the most pressing issues of the Ciliopathy patient community. Over 70 of us, were given themes to talk about and there was no shortage of ideas.
We followed this up with a Q&A session with clinicians and researchers.
“Life throws you curveballs, it’s what you do with them that matters.”
When Fiona Copeland first heard that both her sons had been diagnosed with a rare lung condition, her mind jumped straight to wheelchairs and limitations. Instead, her fight reshaped the way Britain approaches rare diseases.
Now, as she accepted an honorary doctorate from The Open University, her name joins the ranks of celebrated figures such as Sir David Attenborough and King Charles III, a recognition of her lasting impact.
On the 15th January we took our interns and volunteer,Hannah Knocker, to visit the PCD research labs at the Institute of Child Health and the Diagnostic Labs at the Royal Brompton Hospital.
Here is Hannah's reflection:-
The visit offered valuable insight into both the research and clinical pathways involved in Primary Ciliary Dyskinesia. At the Institute of Child Health, we were welcomed into the laboratory environment and introduced to several areas of active research. We learned about lipid nanoparticle development and characterisation, including how particle size and charge are measured, before being given a clear and accessible introduction to PCD and its underlying biology.
We are delighted to learn that long term supporter of the Ciliopathy Alliance, Girish Mali,has been awarded the Lister Prize for his respiratory cilia work into Primary Ciliary Dyskinesia (PCD).
Genetic Alliance UK – UK Rare Diseases Framework Consultation
Join us on Thursday, 11th June 2026 from 12 noon to 2 p.m. to help Genetic Alliance develop practical and realistic policies for Rare Diseases to feedback to the UK Government. We want to ensure that the voices of the Ciliopathy community are heard so would welcome, people with lived experience, support groups, researchers and clinicians to join us for this important workshop.
Register here for the meeting
On Thursday, 19th October 2023 the Ciliopathy Alliance UK hosted a lunch for our Ciliopathy Patient Groups. It was the first time since the pandemic that we have all met face-to-face and it was a great opportunity to meet new people and build new relationships.
Representatives for Alstrom, BBS, PCD and Usher attended as well as Hannah Mitchison, Chair of CAUK and Elizabeth Forsythe, Trustee of CAUK.
On 2nd October 2023, Genomics Englandannounced the 200 rare conditions which will be looked as part of its Generation Study, which aims to start in hospitals in late 2023.
The Ciliopathy Alliance are delighted that Primary Ciliary Dyskinesia (PCD), one of many ciliopathies, will be included in this project.
To find out more about PCD, contact PCD Support UK
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.
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.
Tess Harris represented the Ciliopathy Alliance at two progress meetings of Studying Ciliary Signalling in Development and Disease (SCilS) – the EU-funded Marie Marie Sklodowska-Curie Innovative Training Network (ITN).
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."