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.

We held our 2nd webinar on Monday, 3rd June 2024 and had two really interesting speakers learning about the latest research into RP from Dr. Roly Megaw, University of Edinburgh and about the patient's perspective into sight loss research for Usher patients from Steve White, Cure Usher

The webinar demonstrated that there is much to be hopeful for in respect of sight loss research.

Click here to see the video

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.

Cilia2024 (hybrid) is the 6^th 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.

Our Annual General Meeting will be held online on Thursday, 7th December 2023 from 11.30 a.m. to 12.30 p.m.

Agenda:-

1. Apologies for absence.
2. To approve the minutes of the 11th Annual General Meeting held on 1 December 2022.
3. To receive the Board’s Accounts for the period 1 April 2022 to 31 March 2023.
4. Chair’s Annual Report.
5. Approve the appointment of Mrs. Kerry Leeson-Beevers as a member of the Board for a term of 3 years.
6. Approve the reappointment of Dr. Elizabeth Forsythe as a member of the Board for a 2^nd term of 3 years.
7. Approve the membership applications of Beth Cutting, Marina Arbi, Stephen White (CureUsher), Chloe Joyner (Usher Kids UK) and Faryal Ijaz.

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

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:-

1. Apologies for absence.
2. To approve the minutes of the 14th Annual General Meeting held on 21st October 2025.
3. To receive the Board’s Accounts for the period 1 April 2025 to 31 March 2026
4. Chair’s Annual Report.
5. 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.

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."

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.