Melissa Benoit

Basic Facts

Cystic fibrosis (CF) is a common genetic disease that is inherited from your biological parents. It is the most common genetic disease in Caucasians, approximately 1 in every 3600 children born in Canada has CF.

Genetic illnesses occur because of abnormalities in our genes.

All the cells in our body contain DNA.  Simply put, our DNA is the instructions on how to build us.  If you think of our DNA like a library, then all these instructions are divied into "books" - called chromosomes and within each book, there are chapters, called genes.  Each gene contains the detailed insructions on how to build one part of our body.

Just like there can be mistakes in written instructions, there can be mistakes in our DNA.  A mistake in our DNA is called a mutation.

The CF gene is the instructions on how to build a channel (or pore) in our cells that allows salt to move into and out of the cell.  This salt channel is called CFTR, the cystic fibrosis transmembrane regulator.  A mutation in the CF gene means that there is a mistake in the instructions on how to build this salt channel so it does not work properly.

CFTR is important in regulating the mucus in our bodies - for example in the lungs, sinuses, and digestive tract . If CFTR does not work properly, the mucus is abnormally thick and sticky.

We inherit a copy of our genes from our parents - one copy from our father and one from our mother. If only one copy of the CF gene with a mistake (mutation) is inherited, then the individual is a "carrier" of the CF gene.  This is because they carry the mutation (and can pass it onm to their children), but because the copy of the gene inherited from the other parent is normal, the salt channel (CFTR) works well enough that there are no medical problems.  However, if the CF gene inherited from both parents have mutations, then the salt channel does not work at all (or only works a tiny bit) and then, there are medical consequences.  People with CF commonly have lung, digestive, nutritional and reproductive problems.

Although we are constantly searching for a permanent solution to CF, there is no cure....yet!  But, with appropriate therapy, it is possible to slow the progression of disease and control complications from CF.  Click for more information