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.
SCilS Meetings in 2022
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).
BEAT-PCD Patient Conference 2-3 December 2022 Online
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.
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.
BEAT-PCD Meeting
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.
BESTCILIA established the first evidence-based pharmacotherapy for the rare disease primary ciliary dyskinesia
by Johanna Raidt & Heymut Omran for the BESTCILIA consortium
* University Hospital Münster, Germany
Unity and diversity of cilia in locomotion and transport
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.
Targeting a new modifier gene in Joubert Syndrome offers hope for a therapy
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.
Opportunities and challenges for molecular understanding of ciliopathies – the100,000 Genomes Project
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).
Talk on ciliopathies in the 100,000 Genomes Project
Dr Gabrielle Wheway presented on 'Ciliopathies and the 100,000 Genomes' at the Ciliopathy Alliance AGM in March 2019.
Genetic editing breakthrough in Joubert Syndrome
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 Secret to a Bigger Better Brain
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 International Conference
Cilia 2016 Conference was held from 4 - 7 October 2016 at the Royal Tropical Institute in Amsterdam, The Netherlands.
Ciliopathy Alliance 5th Anniversary Meeting 19 October 2015
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 International Conference
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.
CA Family Conference 2013
'Speaking Up for Children with Ciliopathies'
31 May - 2 June 2013