AGM 9th December 2024

Our AGM was held on Monday, 9th December 2024 from 10 a.m. to 12 noon online.  We were pleased to welcome a number of our members.

We presented a summary of the year 2023-24:-

·       We participated in the European Training Network for studying Ciliary Signalling in development and disease ('SCilS'), funded by EU Horizon 2020, as the primary patient partner.

·         We represented ciliopathy patients at the European Reference Network for Rare Kidney Diseases (ERKNet)

·         We are the patient partner for a new project ‘TheRaCiL’ and CiliaREN.

·         The Ciliopathy Alliance website underwent an update.

·         We represented the patients on the Cilia24 organising committee.

·         We supported the UK Cilia Network to hold their meeting in Edinburgh in September 2023.

We also updated our members on what we have acheived so far in the year 2024/25:-

·        We have transferred Tess’ work to Fiona, Kerry and Audrey and appointed Temi as our Treasurer

·         Held our 2nd Webinar on Sight Loss Research

·         Helped patients in the Netherlands kick start their own Ciliopathy Alliance

·         Attended Cilia24

·         Kicked off a new project looking at our Strategy with Cranfield Trust 

Kerry Leeson-Beevers gave an update on the TheRACIL project

·         TheRacil is funded through the European Union’s Horizon Europe Research and Innovation Programme

·         It is a 4 year project and started in July 2023

·         The Ciliopathy Alliance is a partner in the project

·         The aim of the project is to develop therapeutics for renal ciliopathies (TheRacil)

·         There are 7 work packages (WP) in total:

o   WP1 – Data integration and clustering for predictive signatures

o   WP2 – Molecular signatires for classification and therapy

o   WP3 – Patient eligibility to treatment: prognostic tools and biomarkers

o   WP4 – Drug screening and proof of concept studies

o   WP5 – Patient involvement and reported outcome measures

o   WP6 – Coordination and management

o   WP7 – Dissemination and exploitation

·         The Ciliopathy Alliance are mainly involved in WP5 and are responsible for establishing the Patient and Public Involvement and Engagement (PPIE) advisory group, also known as the PELSI Board (Patient Ethical, Legal, Societal Issues).

·         The project is mainly focussing on 3 ciliopathies – Autosomal Recessive Polycystic Kidney Diseases, Nephronophthisis and Bardet Biedl Syndrome. We have representatives from all 3 conditions on the PELSI Board.

Audrey Hughes gave an update on the CILIAREN project. CILIAREN is connecting stakeholders across the UK to improve the identification, diagnosis and management of patients with renal ciliopathies. The long-term mission is for the development of efficient molecular genetic diagnostics and novel therapies.

A PPIE working group has been formed and action points going forward are to embed patients and patient advocates in all aspects of research, expand RaDaR and other renal registries as much as possible for all renal ciliopathies and to identify and engage with regulators about the challenges for trial design for rare and ultra rare ciliopathies.

Ciliaren were present at Cilia2024 in Dublin and hosted a successful working lunch, welcoming 50 people including patients, patient organisation leads, researchers and clinicians from all over Europe.

           We presented our future plans:-

·         We will strengthen our network – with patient groups and scientific advisors ensuring we have all ciliopathies represented.

·         Encourage networking within ciliopathy groups – holding another annual lunch

·         We will promote cilia research by holding regular webinars, help with the planning of Cilia 27 in Milan and participating as patient partners in TheRaCiL and CiliaREN

·         We will develop a longer term strategy for the Ciliopathy Alliance

We formally appointed Temitope Oyefuga as a trustee from October 2024. We reappointed Fiona Copeland, Tonia Hymers, Roly Megaw and Hannah Mitchison for another 3 years.  The members voted unanimously.

More information can be found here.