Introduction:
Gene editing is a significant genetic technology that can be used to treat many genetic conditions and diseases, such as cystic fibrosis. In this report, the inquiry question will be discussed and answered, in regards to the way gene editing can be used to treat cystic fibrosis, as well as an evaluation of the effectiveness of gene editing.
Cystic fibrosis is a genetic condition that encompasses severe damage to an individual’s respiratory and digestive systems. This genetic condition causes a buildup of thick, sticky mucus in organs such as the lungs, pancreas, liver and intestines. Cystic fibrosis affects the cells that produce and develop sweat, mucus, and vital digestive enzymes. Fluids on these organs should be thin and smooth, in order to lubricate these various organs and tissues, which prevents them from getting too dry or infected. When cystic fibrosis is present, a faulty gene causes fluids to become thick and sticky, which clogs ducts, tubes and passageways inside the body. The buildup of these fluids can cause infections, respiratory failure and malnutrition. Early diagnosis and treatment can be seen to significantly improve quality of life, and can also be seen to lengthen the expected lifespan of individuals diagnosed with cystic fibrosis. People with cystic fibrosis can have a variety of symptoms, some of which include; persistent coughing, frequent lung infections, wheezing, shortness of breath, poor growth or weight gain, constipation, nausea, sinus problems etc. Newborn babies are usually screened for cystic fibrosis. Additionally, doctors use genetic tests and/or blood tests to scan for signs of the disease. These tests detect whether or not the baby has a defective CFTR (cystic fibrosis transmembrane conductance) gene. Other tests that may be completed are:
- Immunoreactive Trypsinogen Test
- Sweat Chloride Test
- Sputum Test
- Chest X-rays
- CT Scans
- Pulmonary Function Tests
At this stage, there is no cure for cystic fibrosis, however, there are many treatments that have become available that work to relieve symptoms and reduce complications in individuals with cystic fibrosis. Some of these treatments include:
- Medications – Such as antibiotics, mucus thinning medication, bronchodilators, nonsteroidal anti-inflammatory drugs, e.g. ibuprofen.
- Chest physical therapy – in order to loosen thick mucus in lungs e.g. chest clapper or inflatable vest that vibrates at a high frequency
Cystic fibrosis is a genetic mutation that cannot be prevented, however, genetic testing on couples with CF or those with relatives with CF should be performed to determine a child’s risk of having cystic fibrosis. Cystic fibrosis is caused by a mutation in the gene cystic fibrosis transmembrane conductance regulator. The most common mutation is a deletion of three nucleotide bases from this gene. Cystic fibrosis is a recessive genetic disease, meaning both copies of a person’s CFTR gene must contain the mutation for CF to occur in an individual. Cystic Fibrosis is reported to occur 1 in every 3700 births across Australia. Approximately 1 in 25 Australians are carriers of the genetic mutation that is seen to cause CF.
Genetic technology, gene editing, is being explored in relation to cystic fibrosis. Cystic fibrosis is caused by a mutation in the CFTR gene. Gene editing works to correct mutations that are in a person’s DNA. People with cystic fibrosis have a mutation in both copies of the CFTR gene, and gene editing requires the use of tools to get inside the person’s cells. There are many different tools which have been used to locate a series of letters in the genome, where in that location, they can break the DNA. The tool seen to be most effective is a gene editing tool called CRISPR. Gene editing has many advantages that apply to cystic fibrosis. For example, the changes made by gene editing are permanent. However, in saying this, there are still risks associated with using gene editing as a genetic technology to treat CF. For example, gene editing tools are often specific to one CFTR mutation, however there are over 1000 mutations that can cause cystic fibrosis. Another risk associated with gene editing in cystic fibrosis is that some gene editing tools break the DNA in the wrong location inside the genome. As a result of this error, other mutations to genes can be caused. There are a plethora of ethical considerations in regards to the treatment and identification of cystic fibrosis using gene editing. As gene screening can be used, as well as other blood tests to identify the mutation of the CFTR gene that causes cystic fibrosis to occur, it is important that ethical considerations are made carefully. If expecting parents discover through screening or other advanced medical treatments and tests that their expected child has CF, they may choose to terminate the pregnancy, which therefore causes questioning in regards to whether or not gene therapy and screening is required and ethical in regards to identifying and recognising CF in unborn babies.
In conclusion, it is evident that through specific gene technologies, such as gene editing, cystic fibrosis can be treated somewhat effectively, despite the ethical considerations and concerns that come with the use of these different gene technologies. Although these technologies can be used to treat CF, scientists and researchers are still working towards finding better methods for treating cystic fibrosis, that don’t come with as much risk, and they may now.
2020-4-2-1585787301