Ciliopathy Network Netherlands
Mission
Our mission is to unite patients (representatives), researchers, and healthcare providers to develop joint initiatives aimed at improving the quality of life for individuals with ciliopathies and their families.
Vision
We will initiate and support national and international initiatives aimed at improving the health and participation opportunities of individuals with ciliopathies and their families, including patient registries, scientific research, therapy development, multidisciplinary care, and meetings between patients (representatives) and professionals. We represent the interests of individuals with ciliopathies and their families, and increase awareness of ciliopathies with a sustainable, self-sufficient organization.
Cilia and Ciliopathies
Cilia are tiny, hair-like structures found on most cells in the human body. They come in two types: motile and non-motile, with non-motile cilia being called "primary cilia." Primary cilia are packed with sensory receptors and proteins that can sense things like bending, chemicals, light, temperature, osmolality (balance of water and ions), and gravity.
When primary or motile cilia don't work properly, it can lead to a class of diseases called "Ciliopathies." Those ciliopathies can cause various problems, like learning difficulties, bone issues, weight gain, vision loss, liver and kidney cysts, and infertility.
Current treatment options for ciliopathies are limited, thus our aim is to bring the knowledge for treatment and research together to improve the quality of life for those affected by a Ciliopathy.