The most common, deadly genetic disorder in the United States is cystic fibrosis (CF), which causes the lungs to be clogged up by a thick, sticky mucus. This may also lead to infections and blockage of the pancreas (National Human Genome Research Institute). The Cystic Fibrosis Transmembrane Regulator (CFTR) gene causes this genetic disorder and was discovered in 1989. Roughly 30,000 people are affected by this genetic disorder in the U.S. and while there is a lot of promising research, a cure is yet to be discovered (National Human Genome Research Institute).
In a normal cell, the CFTR protein allows cells to release chloride and other ions. However, people with cystic fibrosis have defective CFTR protein, which makes their cells unable …show more content…
The respiratory symptoms are problems such as a persistent cough producing thick mucus, wheezing, breathlessness, lung infections, and a stuffy nose. These symptoms are caused by the thick, sticky mucus that clogs up the tubes that bring air in and out of the lungs (Mayo Clinic). People with CF may also have digestive problems because the mucus can clog the tubes that transport digestive enzymes to certain organs. Without the digestive enzymes, the intestines won’t completely absorb the nutrients in food. This problem can affect someone's weight and growth as well as cause intestinal blockage (Mayo Clinic). People with CF also have very salty-tasting skin due to the improper salt balance in their cells. The standard diagnostic test for people with these symptoms is the “sweat-test”. This test measures the amount of salt in someone’s sweat. If the sweat has a high level of salt, it indicates cystic fibrosis (National Human Genome Research Institute). Currently, all newborns are screened for cystic fibrosis in the United States. This means CF can be diagnosed within a month of an infant being born. However, people born before the screening started may need a “sweat-test” if they show any of the
In a normal cell, the CFTR protein allows cells to release chloride and other ions. However, people with cystic fibrosis have defective CFTR protein, which makes their cells unable …show more content…
The respiratory symptoms are problems such as a persistent cough producing thick mucus, wheezing, breathlessness, lung infections, and a stuffy nose. These symptoms are caused by the thick, sticky mucus that clogs up the tubes that bring air in and out of the lungs (Mayo Clinic). People with CF may also have digestive problems because the mucus can clog the tubes that transport digestive enzymes to certain organs. Without the digestive enzymes, the intestines won’t completely absorb the nutrients in food. This problem can affect someone's weight and growth as well as cause intestinal blockage (Mayo Clinic). People with CF also have very salty-tasting skin due to the improper salt balance in their cells. The standard diagnostic test for people with these symptoms is the “sweat-test”. This test measures the amount of salt in someone’s sweat. If the sweat has a high level of salt, it indicates cystic fibrosis (National Human Genome Research Institute). Currently, all newborns are screened for cystic fibrosis in the United States. This means CF can be diagnosed within a month of an infant being born. However, people born before the screening started may need a “sweat-test” if they show any of the