The 11th Ciliopathy Alliance UK AGM was held online on 1 December 2022.
Prof. Hannah Mitchison (interim chair) conducted the formalities, which included: signing off the accounts, approving Dr. Roly Megaw as a member of the board and approving the membership application of Prof. Dagmar Wachten. Hannah also gave the annual report and said thank you to Steve Thacker who sadly passed away earlier this year for his many years of service as a Trustee for the Ciliopathy Alliance.
Fiona Copeland (newly appointed trustee) went through the achievement of the Alliance since conception in 2012:
- We have been part of the organisation team for five very successful Cilia Conferences (held in London, Paris, Amsterdam, Copenhagen and Cologne).
- We held a very successful patient day in 2013.
- Two of our patient groups have been successful in getting NHS Funding for diagnosis and management services.
- A clinical genetics service is now commissioned for rare diseases.
- We are a patient partner for SCIls European Training Network for studying Ciliary Signalling in Development and Disease.
- We are patient representatives in the European Reference Network (ERN) for Rare Kidney Diseases
Fiona explained that the aims of the groups are still to:
- Promote, support, and stimulate the sharing of knowledge and understanding of ciliopathies.
- Promote, sponsor, invite and encourage patients to take part in research.
- Provide information that will benefit people with ciliopathies and their support network.
- Work with governments and other organisations to promote the interests of people with ciliopathies.
We spent some time discussing the future of the group and what the member’s would like us to prioritise. The main themes were:-
- We need to continue to do the things we are already doing but need to be more vocal about what we are doing - we will be reinstating our quarterly newsletter.
- The patient groups would like us to facilitate the creation of a database/schematic that shows all the symptoms of each ciliopathy in order that we can target research more effectively.
- We discussed the possibility of holding another patients day to bring together researchers and patients.
- We need to capture better what research is currently being undertaken in order that we can encourage people to take part and stimulate discussion in the wider group.
Our guest speaker was Helen May-Simera who spoke about the recent Cilia 2022 meeting and specifically about the patient day. The day was free to attend. There were 33 participants – predominantly from Germany, Netherlands, UK, USA and Georgia. There were talks and workshops just for patients, a specialised poster session, translation services for German speakers and increased opportunities for interaction between patients and scientists.
Helen gave us a detailed description of what the Agenda was, what worked well and what can be used for future meetings. The high level summary was how great it was the patients and the researchers to share experiences with lots of ideas from the patients to help improve lives for people with ciliopathies.
The Exchanges patients-clinicians-scientists session was very well received by the scientists – the feedback was that the session was incredibly inspirational and this was the highlight of the meeting for them. For many, post pandemic, this was the first time many of the students had ever met anyone with a ciliopathy.
Please contact us if you have any questions or ideas on how we can continue to help you and achieve our mission of promoting care and an improve quality of life for those with ciliary diseases.