What is PCD?
PCD is a disease caused by changes, called mutations, in one of your genes. Genes are subunits of your DNA sequence. You have around 20,000 genes in total across your whole genome (all your DNA sequence), and each of these genes has a different function. Around one thousand genes are required for making the different types of cilia in your body. Mutations in these genes can lead to diseases called ciliopathies. PCD is a type of ciliopathy. Mutations in 1 of 50 known genes can cause PCD. There may be other genes which can cause PCD, we still do not know all of the causes of PCD.
PCD is thought to affect 1 in 7,500 people in the UK and has a higher incidence in certain communities where consanguineous marriage (a union between two individuals who are related as second cousins or closer) are more common.
Understanding Genetics
Humans, like every other organism, are made up of cells. We all start off as just one cell at the time when a sperm, which carries half of our father’s DNA, fertilises an egg, which carries half of our mother’s DNA. We start life as this single cell with one full copy of DNA, half from our mum and half from our dad. As this cell divides, all of the DNA (subunits of which are called genes) is copied so that every new cell possesses a full set of genetic material: the genome. The mechanism of copying the genome is quite remarkable considering that each cell, which is typically less than 1mm in size, contains around two metres of DNA!
Genetics Glossary
We know that genetic information is sometimes full of new words you may not have heard before. We've put together this handy glossary to help you better understand your genetic information.
Find out more about genetics
Extra information can be found on these sites:
Genetic causes of PCD
Finding out about genomics from the Genomics England
Learning about genetics from Genetic Alliance UK