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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). 

BBS Global Day 23rd September 2023

BBS Global Day is a cooperative effort, coordinated by BBS Internationalwith support from BBS Family organisations in France, Italy, the Netherlands, the UK and North America.

Together they are taking action to raise awareness of BBS, and accelerate research and care for everyone affected by Bardet Biedl Syndrome.

Get Involved

Join Families from around the world as they pledge miles to walk or bike on BBS Global Day to raise funds for BBS research and suppport!

 

 

Cilia 2022 4-7 October 2022 Cologne

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.

Cilia2024 Sept 10-13 Dublin

Cilia2024 (hybrid) is the 6th running of the biennial European Cilia research meeting, taking place on September 10-13 in Dublin, Ireland. As the world’s largest scientific meeting for cilia and flagella research, Cilia2024 will bring together cilia researchers, clinicians, patients and patient representatives from across the globe, partaking in a wide ranging programme incorporating 11 scientific sessions, 4 keynote lectures, 35+ oral presentations, 22 flash talks and 3 poster sessions. Cilia2024 will also provide an elevated forum for patient-scientist-pharma exchange via a specific Patient Event on Sept 09 and 10.  We do hope you will join us!

Registration for Researchers and Clinicians

Registration for Patients and Carers

 

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.

Notice of 12th AGM - 7 December 2023

Our Annual General Meeting will be held online on Thursday, 7th December 2023 from 11.30 a.m. to 12.30 p.m.

Agenda:-

  1. Apologies for absence.
  2. To approve the minutes of the 11th Annual General Meeting held on 1 December 2022.
  3. To receive the Board’s Accounts for the period 1 April 2022 to 31 March 2023.
  4. Chair’s Annual Report.
  5. Approve the appointment of Mrs. Kerry Leeson-Beevers as a member of the Board for a term of 3 years.
  6. Approve the reappointment of Dr. Elizabeth Forsythe as a member of the Board for a 2nd term of 3 years.
  7. Approve the membership applications of Beth Cutting, Marina Arbi, Stephen White (CureUsher), Chloe Joyner (Usher Kids UK) and Faryal Ijaz.

Patient Group Lunch - October 2023

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.

 

PCD included in world leading research study

On 2nd October 2023, Genomics Englandannounced the 200 rare conditions which will be looked as part of its Generation Study, which aims to start in hospitals in late 2023.

The Ciliopathy Alliance are delighted that Primary Ciliary Dyskinesia (PCD), one of many ciliopathies, will be included in this project.  

To find out more about PCD, contact PCD Support UK

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. 

 

 

 

 

Sad News - Tess Harris

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.

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.

UK Cilia Network Edinburgh Meeting - Advances in Understanding Cilia Function and their role in disease

After a long hiatus, the UK Cilia NetworkAutumn meeting returned to an in-person format in Edinburgh. Cilia researchers from around the UK and even Denmark, Germany and Spain gathered to share the latest in cilia science. The meeting organised by Prof. Pleasantine Mill(University of Edinburgh) and Dr. Girish Mali (University of Oxford) was an excellent showcase of the breadth of cilia research currently going on in the UK and Europe, as well as the interdisciplinary nature of cilia research.