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1st Webinar 11th November 2023

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 byFiona 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.

 

 

 

Advancing therapies for paediatric renal ciliopathies - TheRaCil

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). 

Ciliopathy Alliance UK AGM 1 December 2022

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.

PCD Support UK Medical Board Meeting

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.

 

 

 

Rare Disease Day House of Commons 29th February 2024

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. 

 

 

 

 

Save the Dates - Webinar and AGM

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.

 

 

Transition - Knowledge And Skills in Healthcare (T-KASH) Resources

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.