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).
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:-
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.
Our trustee, Fiona Copeland, recently met Adrian at a fundraising event for Retina UK. He shared with her his Retinitis Pigmentosa (RP) diagnosis and how it affects him every day. He is keen to share his story to help raise awareness of RP and to help demonstrate why it is so important that we continue to advocate for research into this condition. If you would like to share your story then please contact us.
The Long Road After Diagnosis
By Adrian Madzura
After being diagnosed with retinitis pigmentosa, a degenerative eye condition, one man’s life was turned upside down. Independence and certainty disappeared almost overnight. What followed was a difficult journey through fear and financial hardship but also the discovery of art, support and a new sense of purpose.
“It takes time to accept the situation you’re in… And to learn to love yourself all over again.”
Before his diagnosis, Adrian Paternoster’s life followed a familiar rhythm. He worked full-time, travelled to work each day and built a steady life with his wife, Louise. The couple had moved from High Wycombe to Aylesbury, settling into what felt like a normal routine. Work was physical and demanding, but it was also stable.
Then small things began to go wrong.
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.
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.