Introduction to Cystic Fibrosis

“Cystic Fibrosis (CF) is one of the most common genetic (inherited) diseases in America. It is also one of the most serious. It mainly affects the lungs and digestive systems in the body, causing breathing problems and problems digesting foods. It is a chronic disease that currently has no cure.”

When a baby is born, Cystic Fibrosis will be present if the little one inherited a mutated CFTR gene from each parent (mom and dad). Now, every little one inherits two copies of the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene. The thing though, is that those two copies of the CFTR gene can either be mutated or not. If you only have one mutated CFTR gene, you would only be a carrier of the gene. However, being a carrier of the gene comes with a downside. If you happen to have offspring with someone who is also a carrier, there is a chance you could have an offspring with Cystic Fibrosis or your offspring would be a carrier of the mutated CFTR gene as well. To have Cystic Fibrosis, both of CFTR gene copies have to be mutated. 


“The most common mutation is delta F508, accounting for approximately 70% of all mutations.” Sources: The Cystic Fibrosis Center at Stanford, http://med.stanford.edu/cfcenter/education/english/BasicsOfCF.html