Cystic Fibrosis: A Genetic Mutation BY JASON DIMATTEO

This disease is called Cystic Fibrosis. This disease is caused by a mutation that occurs in a gene called "CFTR" which stands for "Cystic Fibrosis Trans-membrane Conductance Regulator." This protein then goes into the lungs and builds up thick mucus that clogs the airways in the lungs. Symptoms of this disease include very salty-tasting skin, persistent Coughing, Frequent lung infections including pneumonia and bronchitis, wheezing or shortness of breath, and poor growth and weight gain. This disease is a genetic disease. People with CF have inherited two copies of the CFTR. One copy from each parent. Both parents must have at least one copy of the defective gene. Nothing will happen to the child if only one parent has the gene. Also because the parent has this gene doesn't mean that they have CF.

Some statistics about CF is that 30,00 people are diagnosed with it in the United States and over 700,000 people all across the world are diagnosed with CF. There isn't a specific type of person that would get CF because 75% of people are diagnosed with CF by the age of 2.

There is treatment for Cystic Fibrosis. The thing is that there isn't one specific one. See, treatments all depend on the type of CF the person has. The most common treatment though is Airway Clearance. This helps loosen and get rid of the thick mucus that gets clogged in the lungs. The prognosis for a patient with CF is that they will always continue to have lung infections and will have to always visit the doctor for checkups. The genetic pattern of inheritance is autosomal because when the child has CF it means that both of their parents had the defective CF gene. It is also recessive because two copies of the gene are likely to have the trait. The current research on CF is being worked on by the Cystic Fibrosis foundation. They have a team of employee's that work long hours to help and discover more treatments for this disease and maybe even one day find a complete cure for it.

Works Cited

“Cystic Fibrosis Foundation.” About Cystic Fibrosis | CF Foundation, 2017, www.cff.org/What-is-CF/About-Cystic-Fibrosis/?gclid=CPaU3Nj87NECFVhYDQodNJ4EWQ.

“Cystic Fibrosis.” MyVMC, 18 June 2015, www.myvmc.com/diseases/cystic-fibrosis/.

Eugene Ofori-Addo Follow. “Cystic Fibrosis- PFC Ofori Addo.” Share and Discover Knowledge on LinkedIn SlideShare, 30 Apr. 2015, www.slideshare.net/EugeneOforiAddo/cystic-fibrosis-pfc-ofori-addo-47594758.

“Piecing Together Cystic Fibrosis.” Johns Hopkins Medicine, Based in Baltimore, Maryland, www.hopkinsmedicine.org/research/advancements-in-research/fundamentals/in-depth/piecing-together-cystic-fibrosis.

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