“The Ciliopathy Alliance brings together patient support groups, researchers, doctors and allied health professionals representing patients and families living with and affected by ciliopathies - diseases caused by defects in the function or structure of cilia.

Dysfunctional cilia are known to underlie a number of often chronically disabling and sometimes life-threatening genetic conditions. They affect multiple systems, causing blindness, deafness, chronic respiratory infections, kidney disease, heart disease, infertility, obesity and diabetes.

Over 20 ciliopathies have been identified and more are suspected, with an estimated 1 in 1,000 people affected.

Our shared vision is to improve the quality of life for people living with ciliopathy syndromes and conditions. Please join us in this endeavour.“

~ Ciliopathy Alliance

More information on the website of the Ciliopathy Alliance UK.

“The TheRaCil consortium is coordinated by Dr. Sophie Saunier at the Institut Imagine (France). It brings together 17 partners from 6 countries. It builds on multiple existing national and European networks in the field of cilia biology and clinical genetics of kidney diseases.”

The goals of TheRaCil are:

1. “To improve diagnosis and prognosis of at risk pediatric renal ciliopathy patients”

2. “To implement therapeutic approaches aimed at targeting shared pathological pathways, at modifying mRNA targets of the causative or modifier genes by antisense oligonucleotides and by the repurposing of available molecules”

More information on the TheRaCil website.

“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.”

More information on the Cilia2024 website.

In this webinar organized by the Ciliopathy Alliance UK, Bendert de Graaf shares his personal story about Bardet Biedl Syndrome and the project PREDICT, which aims to help clinicians diagnose rare diseases more efficiently.