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 are delighted to be the patient partner in a 4-year research programme funded through Horizon Europe, the European Union's framework program for research and innovation. “Therapies for Renal Ciliopathies” (TheRaCil) was in the call "Development of new effective therapies for rare diseases".

TheRaCiL brings together 16 partners - 15 institutions in 6 countries - 3 European consortia and the Ciliopathy Alliance with the ambition to develop appropriate and targeted treatments for paediatric renal ciliopathies. TheRaCil will benefit from a European Commission funding of 7,425,446 euros and a co-funding of 540,520 euros from UK Research and Innovation (UKRI). 

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.

BBS Global Day is a cooperative effort, coordinated by BBS Internationalwith support from BBS Family organisations in France, Italy, the Netherlands, the UK and North America.

Together they are taking action to raise awareness of BBS, and accelerate research and care for everyone affected by Bardet Biedl Syndrome.

Get Involved

Join Families from around the world as they pledge miles to walk or bike on BBS Global Day to raise funds for BBS research and suppport!

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

On Thursday, 19^th 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.

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.

NICE has released guidance on Setmelanotide, a new drug for managing hunger and weight gain in BBS. This is exciting news for the BBS community and we look forward to seeing how this will be rolled out in clinical practice. 

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