Question: What are ciliopathies?

Emma Daniels answered on 15 Jun 2020:

Hi Nicolás! I hadn’t heard of the term ciliopathy before, so thank you for asking this question! I’ve done a bit of research (a.k.a googling…) and I’ve learnt that ciliopathies are diseases that are caused by defects in the structure or function of cilia. These diseases are caused by genetic mutations.

Cilia are a type of organelle – a subunit of a cell that performs a specialized function. Their name is derived from the Latin word for eyelash, because cilia are thin and long, and stick out from the surface of cells. There are different types of cilia that do different jobs in the body. Cilia in the lungs, respiratory tract and ear help keep airways free of mucus and dirt, helping us to breathe easily. Other cilia are used in sensing and signal processes and can help the movement of cells. So if these cilia aren’t functioning properly, due to genetic defects, these processes are hindered, leading to ciliopathies.

This wesbite was really helpful; https://www.ciliopathyalliance.org/