How Cystic fibrosis is inherited

According to the Cystic Fibrosis Foundation, Cystic fibrosis is a progressive, genetic diseases that affects the lungs, pancreas and other organs. Around the world, in about 94 countries, there are about 105,000 individuals living with Cystic fibrosis. Cystic fibrosis is not racially-selective and as such, it can affect anyone in any racial or ethnic group. Cystic fibrosis is caused by a mutation in the Cystic fibrosis transmembrane conductance regulator (CTFR) gene. 

The disease affects the cells that produce secreted fluids in the body like mucus, sweat and digestive juices. Usually, these fluids are thin and slippery but the mutation of the CTFR gene causes them to be sticky and thick and they begin to block tubes, ducts, and passageways in the lungs and digestive system. The past years have seen an improvement in the quality of life of people living with Cystic fibrosis due to improved medical research.

Usually, every child inherits one CFTR gene from each parent making a gene pair. Consequently, when a child inherits a mutated CFTR gene from both parents, the child will have cystic fibrosis. On the other hand, if a mutated CFTR gene is inherited from just one of the parents then the offspring will be a genetic carrier of the CFTR gene. It is important to note that for this to happen then the other parent must have a normal CFTR gene.

Sources

https://www.cff.org/intro-cf/about-cystic-fibrosis

https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700#:~:text=Cystic%20fibrosis%20is%20a%20disorder,mucus%2C%20sweat%20and%20digestive%20juices.

https://www.nhlbi.nih.gov/health/cystic-fibrosis/causes#:~:text=Every%20person%20inherits%20two%20CFTR,be%20a%20cystic%20fibrosis%20carrier.

New Cystic Fibrosis Treatment

Recently, the New York Times posted an article stating that a new cystic fibrosis drug is available on the market. Kalydeco, the drug developed by Vertex Pharmaceuticals, is capable of correcting a mutation that occurs on the G551D gene. The G551D mutation is one of the rare forms of mutations in patients with cystic fibrosis, and therefore the drug will cost an estimated amount of about $294,000 annually.

 The article stated that ivacaftor, Kalydeco's generic name, took years to develop because the researchers could not figure out how the mutations evetually led to the actual disease. The pharmaceutical company has two other drugs in the clinical trial phase, and plans to finish trials and get approval as soon as possible.