Gene Technology Is The Basic Physical And Functional Unit Of Heredity

Cystic Fibrosis (CF) is a genetic disorder in which mucus glands produce abnormally thick secretions. These secretions can lead to chronic infections of the lungs and eventually lead to obstruction of the pancreas, resulting in digestive enzyme deficiency, the liver is also sometimes affected. Secretions from the sweat and salivary glands of a CF patient frequently contain abnormally high amounts of sodium and chloride. Because the body produces a high amount of salt, a sweat test is generally used to diagnose the disorder.

Between genetics, symptoms, pathology, treatments and new innovations, one could say Cystic Fibrosis is a loaded and complicated illness. However, C.F. effects too many people for it to be forgotten about or underrepresented. With further research and new discoveries, every day we are one set closer to curing this

Cystic fibrosis (CF) is a life-threatening genetic disease, explicitly an autosomal recessive genetic disorder, which primarily affects the lungs and digestive system. An estimated 30,000 children and adults in the United States have CF (Song, Chiu, & Yoon, 2012). According to the Cystic Fibrosis Foundation, “In the 1950s, few children with CF lived to attend elementary school”("Cystic Fibrosis Foundation," 2014, p. 1). It is important to recognize the progress that has been made on diagnosing CF, as well as the numerous treatments that have figuratively, and in a sense, literally given a breath of life to those affected by Cystic Fibrosis. The advancement in diagnostic screening at birth and specific presenting symptoms, provide physicians and practitioners the opportunity to examine and aggressively treat CF from an early age, yielding a considerable positive impact on the life expectancy of those with CF. “During the past 3 decades, treatment advances have raised the median predicted survival age in the United States from 25 years (1985), to 37.4 years (2008)”(Song, Chiu, & Yoon, 2012, p. 132).

In the United States there are close to thirty - thousand people and seventy thousand people worldwide living with Cystic Fibrosis today, with the majority of them being over the age of eighteen. CF has over eighteen-thousand mutations, but most of the tests can’t always pick up on them, only the more common mutations of CF. By the age of two, over seventy-five percent of kids containing CF are diagnosed, making over one-thousand new cases of Cystic Fibrosis diagnosed every year. Cystic Fibrosis is caused when both the parents of the child have the CF genes which is why it is a recessive genetic disorder. Thus making it something that isn’t

“A team of scientists conducted a trial therapy that replaced defective genes that cause cystic fibrosis. The results showed noteworthy advantage that enhanced patients' lung function. This innovation was developed by the technology firm Imperial Innovations. The worn-out genes were replaced by using inhaled molecules of DNA, which send normal working duplicate of the gene to lung cells. "Patients who received the gene therapy showed a significant, if modest, benefit in tests of lung function compared with the placebo group," said Eric Alton, the team's lead researcher, who works at Imperial College London.”

Gene therapy: Is a treatment method that involves the manipulation of an individual's genetic makeup. A form of therapy that attempts to fix the defective gene which is causing the disease.

The average life span of a person with Cystic Fibrosis is 25-30 years of age. Although the more traditional treatments of this disease are adequate, is there something else that could be even better? Gene therapy is fast becoming one of the more studied aspects of genetics today. Let's take a look at some details of Cystic Fibrosis and gene therapy.

Cystic Fibrosis is a medical condition in which a thick and sticky mucus progressively covers organs, causing them to malfunction. This disease is commonly known for affecting the lungs and bronchi, however there are many more risks the disease brings to organs. Not only does Cystic Fibrosis bring risk to organs, it runs risks to all people. Everyone carries two CFTS genes, however the genetic disease only occurs hereditarily in offspring of two carriers holding damaged CFTS genes. Cystic fibrosis brings a fragile lifestyle to its carriers, and to the tissue and organs of carries. Scientists are trying to find good in the commonly known as “Bad” gene. However, it takes genetic break down to understand the good and bad points of Cystic fibrosis.

A group of scientists from Oxford University, Imperial College London and The University of Edinburgh are currently doing clinical trials on 130 people who suffer from CF. The vector that is used is not a virus like most other cases of gene therapy, but rather an artificially created lipid that fuses with cells in the lungs and transfers DNA for the correct CFTR gene. The reason a viral vector is not used is because lung cells are constantly replaced. This causes that victims of CF will have to receive gene therapy on a regular basis. If the same viral vector is inserted into a patient multiple times, the body will build up immunity to this virus and lessen its affectivity. Although the chosen method is less effective than using viruses, it can be used multiple times. The trials are still in progress and have experienced no complications thus far. The trials will continue until July 2014 and the results are planned to be published in October 2014.

Cystic fibrosis is an autosomal recessive disease affecting nearly 1 in 2,500 of people of Western European descent. The lifespan for anyone afflicted with cystic fibrosis ages from 30 to 40 years old with many complications presented throughout their life. These complications can include lung diseases that result in many different respiratory infections. Although cystic fibrosis is not a preventative nor curable disease, there are many different ways to help patients suffering from the disease by alleviating many of their symptoms and detect which treatments would be most beneficial for the patient. While there are therapy treatments available, researchers have been finding other ways to possibly treat the disease to the point where the mutated gene is almost eliminated from the body.

This uncertainty prevented scientists from correctly identifying patients having cystic fibrosis and identifying new drugs tailored for specific patients. The difficulty with cystic fibrosis is, “Almost 2,000 DNA variants that have been reported in the CFTR coding and flanking sequences, but the disease liability of only a few dozen has been ascertained.” (Sosnay et al., 2013) The primary goal of the research was to expand on the number of DNA variants known to have affects relating to cystic fibrosis. Variants were collected from clinical and research laboratories and placed into a central repository. Researchers used this database to observe the variants in individuals with the same phenotypes. By doing so, the researchers were able to identify which variants were harmful. At the beginning of the research, only 23 variants were known to be disease-causing. Through research, an additional 104 DNA variants were

The Cas9 System and a small guide RNA molecule. The Cas9 is an enzyme that “snips through DNA like a pair of molecule scissors”(Zagorulya). The second component is a RNA molecule that acts as a guide to direct the Cas9 to the targeted sequence of DNA in the genome. DNA repair mechanisms in the cell can silence the gene if cut. When adding a new DNA fragment to the Cas9-gRNA complex, repair machinery repair DNA by adding the new DNA where the enzyme cut, through the DNA. With this, a mutation can be introduced into the gene or a new gene can be introduced into the cell DNA. Scientists are able to manipulate DNA in numerous ways using the system and study the function of health and mutated forms of specific genes. The flexibility of this system allows scientists to study any gene despite its location or composition of DNA. Flexibility is due to the RNAs design as it is created to target any site of the

It is known as an experimental technique which makes use of genes in order to help treat or prevent diseases. This is done when a doctor is able to insert a modified gene into a patient instead of having to make use of drugs and surgery. Several approaches to gene therapy have been tested such as:

Cystic Fibrosis (CF), is another disease that is taking to genetic therapy. If a corrected gene could somehow enter the cells that line the lungs, it will then start producing the critical proteins that CF patients need. This has been done, although in small quantities. These results, however, have raised hopes that sometime in the future, CF may be curable.

The second stage involves cutting the required gene for recombination. DNA is a very fragile molecule which can easily be fragmented by physical means but this occurs randomly. In this case a particular gene is required; in order to cut out this particular gene from the whole DNA we need precise tools. The enzyme restriction endonuclease acts like a pair of molecular scissors so that the required gene can be spliced out into a carrier molecule. The gene can then be cloned to get many copies of the required length of DNA.1 2 The third stage involves joining up the cut out gene into the carrier molecule (vector).