News and Events

The Ciliopathy Alliance are delighted to welcome Temitope Oyefuga as a Trustee. Temitope brings with her a wealth of experience in the finance and charity sectors and will be a welcome addition to our team.

Find out more about her and our trustees click here.

We held a patient meeting ahead of the main meeting and a number of clinicians and researches were invited to join our 'World Cafe'.  This gave us the opportunity to work together on the most pressing issues of the Ciliopathy patient community.  Over 70 of us, were given themes to talk about and there was no shortage of ideas.

We followed this up with a Q&A session with clinicians and researchers.

Our next AGM will be held on Monday, 9th December 2024 from 10 a.m. to 12 noon online.  Speakers to be announced closer to the time. Please save the date!

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

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. 

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.

Cilia2024 (hybrid) is the 6^th 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

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's personal story and about the BBS Group in the Nederlands and about Project Predict

-  Plans for the Ciliopathy Alliance UK over the next few years by Fiona 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.

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 2^nd 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.

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.

On Thursday, 19^th 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.

On 2nd October 2023, Genomics England announced 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

After a long hiatus, the UK Cilia Network Autumn 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.

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). 

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) resources which 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.

BBS Global Day is a cooperative effort, coordinated by BBS International with 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!

The Ciliopathy Alliance are delighted to be involved with this exciting new UK Renal Ciliopathies National Network as part of the bigger UK Rare Disease Research Platform, with a £14 million investment over 5 years for rare diseases. 

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 11^th 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.

Tess Harris represented the Ciliopathy Alliance at two progress meetings of Studying Ciliary Signalling in Development and Disease (SCilS) – the EU-funded Marie Marie Sklodowska-Curie Innovative Training Network (ITN).

Fiona Copeland was a guest speaker, talking about the PCD Service in the UK, at the BEAT-PCD Patient Workshop on 2-3 December 2022. The meeting organised jointly by patients with PCD and their families, researchers, and clinicians.

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.

At a satellite of the 2022 European Respiratory Society (ERS) annual meeting in Barcelona, a joint meeting of the ERS-sponsored BEAT-PCD Clinical Research Consortium and the European Reference Network ERN-LUNG was held on 03/09/22, to engage clinicians, researchers and patient advocacy representatives in a first face to face meeting together since the pandemic.

by Johanna Raidt & Heymut Omran for the BESTCILIA consortium

* University Hospital Münster, Germany

Royal Society Publishing has recently published a special issue of Philosophical Transactions B entitled Unity and diversity of cilia in locomotion and transport, a Theo Murphy meeting issue compiled and edited by Kirsty Y Wan and Gáspár Jékely.

Professor John Sayer and his team at Newcastle University have recently identified a new modifier gene in Joubert Syndrome, which could become a novel target for a therapy.

The 100,000 Genomes Project launched in 2012 to improve diagnosis and future care for individuals affected by rare diseases like ciliopathies, through whole genome sequencing (WGS).

Dr Gabrielle Wheway presented on 'Ciliopathies and the 100,000 Genomes' at the Ciliopathy Alliance AGM in March 2019.

Joubert syndrome primarily affects children from a very early age. It is an inherited condition that leads to kidney failure, blindness and brain developmental abnormalities.

It is an incurable condition. The treatments are mainly supportive. Dialysis or transplantation is required in majority of patients who suffer with kidney failure.

The ‘3 Minute Thesis’ competition (3MT) celebrates research conducted by PhD students around the world. The premise of the competition is simple: PhD students are set the challenge of explaining their research project to a non-specialist audience in just three minutes.

This entry by Dr Elizabeth Forsythe won the competition for University College London in 2018 and has been entered for the national semi-finals. It explains what happened when a group of children with the ciliopathy Bardet-Biedl Syndrome took part in a research study aiming to improve their memory and brain capacity. The exciting results show that our genes are not our only destiny, and that exercise really could be the secret to a bigger, better brain.

Cilia 2016 Conference was held from 4 - 7 October 2016 at the Royal Tropical Institute in Amsterdam, The Netherlands.

The Ciliopathy Alliance 5th Anniversary Meeting was held on Monday, 19 October 2015 at the Institute of Child Health, London.

Below are the slides:

Cilia 2014, the second International 'Cilia in Development and Disease Scientific Conference' was held from 18-21 November 2014, at the Institut Louis Pasteur, Paris, France.

'Speaking Up for Children with Ciliopathies'

31 May - 2 June 2013