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).
The Hybrid EMBO Workshop Cilia2022 was held 4-7 October 2022 in Cologne. The workshop covered 8 main topics: (1) molecular and clinical aspects of ciliopathies (including kidney, eye, brain, and motile ciliopathies), (2) cilia in tumour cells and cancer, (3) cilia in metabolism, (4) cilia in neurons, (5) structure biology of cilia, basal bodies, centrioles, and centrosomes, (6) ciliary protein and membrane trafficking, (7) cilia in signalling and development, and (8) motile cilia or flagella.
Our Annual General Meeting will be held online on Thursday, 7th December 2023 from 11.30 a.m. to 12.30 p.m.
Agenda:-
- Apologies for absence.
- To approve the minutes of the 11th Annual General Meeting held on 1 December 2022.
- To receive the Board’s Accounts for the period 1 April 2022 to 31 March 2023.
- Chair’s Annual Report.
- Approve the appointment of Mrs. Kerry Leeson-Beevers as a member of the Board for a term of 3 years.
- Approve the reappointment of Dr. Elizabeth Forsythe as a member of the Board for a 2nd term of 3 years.
- Approve the membership applications of Beth Cutting, Marina Arbi, Stephen White (CureUsher), Chloe Joyner (Usher Kids UK) and Faryal Ijaz.
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.
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.
It is with great sadness that we advise you of the passing of one of the Ciliopathy Alliance’s biggest allies, Tess Harris, who peacefully passed away on March 1, 2024, at the age of 68.
Tess was a tireless advocate for Polycystic Kidney Disease (PKD) for over 20 years, as a Trustee and later becoming the CEO of the PKD Charity.
We will be holding a Webinar showcasing the work of some of our Scientific Advisory Board members on Wednesday, 15th November from 16:00 to 18:00.
Our AGM will be held online on Thursday, 7th December 2023 from 11.30 to 12:30.
Details on how to join will be sent out at a later date.
Let’s Get it Right for Young People!
Our friends at Breaking Down Barriers have been busy revamping the T-KASH (Transition - Knowledge And Skills in Healthcare) resourceswhich were originally created in 2015 by young people from the Alström Syndrome UK (ASUK), Hear My Voice Youth Forum. The FREE resources are designed to support young people, families, and healthcare professionals, to help everyone understand the transition journey and the things that are important to young people as they grow up.
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.
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.