FINAL POST

Research Question:
In what way does gene therapy heal such disease like Cystic Fibrosis?

"THE GENE THERAPY ERA" 

In general , Cystic Fibrosis is an inherited disease nor genetic disorder that is caused by a faulty gene that is a mutation on chromosome 7 which disturbs the usual function of epithelial cells.  From findings, around 70,000 worldwide populations are diagnosed with Cystic Fibrosis and they are mainly inherited through genes from neither one nor both of our parents. Epithelial cells are the kind of cells that build up each of its sweat glands in skin and line the passageways in various systems. Normally, the inherited Cystic Fibrosis gives instructions to the body to produce a certain protein called CFTR (cystic fibrosis transmembrane conductance regulator) which creates sweat, saliva , tears , mucus and enzymes. However, if there are complications in the CFTR, these cells may not control the amount of sodium chloride giving troubles to the balance between salt and water reducing its ability to produce thin coating fluid and mucus. Effects may vary in different parts of the organs such as sinuses in nose, sweat glands that creates salty sweat in skin, complication in reproductive organs, blockage in pancreatic or biliary ducts and bacterial infection in airways. Apart from that, with the thick, sticky mucus covering parts such as the lungs, liver, pancreas, and digestive system, it has provided a much more less functional organs and systems.

FIGURE 1
The picture represents the differences of a normal lung airway and a lung airway which is affected by Cystic Fibrosis. For the normal airway, the presence of the CFTR channel is there with precise amount of water,mucus and chloride needed while the lung airway with cystic fibrosis has no presence in CFTR channel that affects the mucus giving a sticky mucus which traps bacteria causing problems in the body.http://www.nchpeg.org/nutrition/index.php?option=com_content&view=article&id=468&tmpl=component


Through a technique called gene therapy, researches are truly convinced that it has the capability to attack diseases that are inherited. For a disease such as Cystic Fibrosis, scientists have discovered a harmless virus known as Adeno-associated virus (AAV) as one of the solution considered since viruses was one of the main method hoping it could replace affected cells of such sickness into healthy ones. Adeno-associated virus is a non-pathogenic virus, which contaminates neither humans nor animals. However, the use of AAV helps transport the genes into cells. As stated, the average life expectancy of a person who received Cystic Fibrosis is 31 where human trials were now done in a procedure, which includes fatty substances as well as liposomes as a path to lead the certain virus and deliver new genes. In result, individuals whom received tests for cystic fibrosis were then free from the disease due to its effectiveness and its ability to be easily detected by our body's natural defence systems. However, we may not know how this treatment may impact various individuals with different body situations.       

FIGURE 2
The pictures shows the gene therapy using an adenovirus vector. The modified gene is inserted between viral genes where during the process, the gene is injected to the certain cell and is then building up proteins with the new gene inserted.
http://www.lysosomalstorageresearch.ca/Fabry_eClinic/images/Content/Management/gene_therapy.jpg

FIGURE 3

The picture describes the process of gene therapy through Adeno-associated virus.The virus itself can't replicate by themselves and therefore require a helper virus such as adenovirus . Also they are non-pathogenic (not known to cause disease).The process itself is also an insertion of genes which will then expresses proteins.

http://cisncancer.org/research/images/gene_therapy_002-w.jpg

By taking charge of the source that causes Cystic Fibrosis, Gene therapy provides an aspiration for a life-saving treatment. With a basic concept of identifying a certain defected gene and correcting them with a normal gene, two methods were stated. Germ Line Gene Therapy is one out of the two methods that changes the genetic pool which will then affect upcoming generations while Somatic Gene Therapy exchange the defected gene, yet these changes would not affect generations later. Through the capability of gene therapy in curing Cystic Fibrosis, benefits as well as limitations were considered. Correspondingly, Gene Therapy fixes the disease itself in a way the expression was arranged which then creates an ability to produce a disease-free life or to be able to heal. As the therapy develops day-by-day, new ways referring to the main idea was found to enable improvements for better understanding and an increase in ways to cure. Since gene therapy is one of the treatments considered, patients who received Cystic Fibrosis may prevent harmful unnecessary treatment given due to high advanced technology used in the techniques.

FIGURE 4
The picture represents chromosome 7 which is a chromosome that is deleted with people who inherited the sickness of Cystic Fibrosis.The mutation itself could effect in many ways such as the loss of amino acids, the lost of protein making ,short in chloride,water as well as mucus and etc.https://www.msu.edu/~luckie/cfsa2.gif

Other than benefits, limitations were figured during the process. A limitation, which includes Germ Line Therapy, creates a result, which was unable to be resolved since the therapy changes the expression and will be affected to following generations. These changes as well are adjustments giving differences in traits of the certain person and with less understanding towards the upcoming product, neither negative nor positive outcome gives unknown aftereffect to gene pool afterwards. Researches also weren't positive on the amount of time needed to be able to receive the result and how much repetition is done as a reason for a few, numerous trails are needed to be completed to succeed since the body might have difficulties in identifying the new gene and rejects after that. Risks in inserting the new gene may also cause harmful DNA mutations having damages in parts of the body and cells inside. In some occasions, gene therapy is still experimental in a way these technologies is not sufficient. Nevertheless, there are still uncertainties in applying gene therapy into individuals.

 

FIGURE 5
The picture defines the inheritance of cystic fibrosis in both parents (carriers). Within 4 child in result of a mix of both heterozygous, 25% is affected (homozygous recessive) , 50% carrier (heterozygous)and 25% unaffected (homozygous dominant). Therefore there are 1 in 4 chance the offspring will be affected by cystic fibrosis.
http://upload.wikimedia.org/wikipedia/commons/3/3e/Autorecessive.svg



With Gene Therapy known as a complicated scientific procedure, wide ranges of techniques are expanded to be appropriately used. Considering Gene Therapy as a method that changes its gene structure, many ethical concerns were discussed. It has been told that in some situations, patients who goes through gene therapy still continued their medical drug treatments which give its people second thoughts on how effective the scientific solution is. Sadly, arguments between the solution used for curing diseases nor as an enhance in trait occurred with a reason of fear that gene therapy may be used more as a trait enhancement which by then could badly effect the society and developments in discrimination rises towards people who did inherit unwanted traits. Confusions also enlarge difficulties in comparing traits that are examined as a disease and traits that defines mentally, physiologically and physically. In addition, large amount of ethicists doubt how useful the solution is as well as concerned on how might these genes later be used for future experiments involving genes. As a matter of fact, debates questioning the problems of gene therapy were pursued to permit newer advances that will limit implications regarding assorted factors. 

In conclusion, Gene Therapy did provide beneficial outcomes for Cystic Fibrosis patients and have let new ideas for prevention in such diseases. Even though Gene therapy may own drawbacks, the treatment itself have continuously boost in progress with a point of view that becomes better throughout years of research and experiments. Due to a potentially positive end result, not only it will give possibilities in ending unacceptable inherited sickness, suitable gene therapy treatment of various specific methods will be introduced with a goal to avoid and heal the disease of Cystic Fibrosis.

RESOURCES:

ONLINE:

"Cystic Fibrosis." KidsHealth - the Web's Most Visited Site about Children's Health. Ed. Floyd R. Livingston Jr. The Nemours Foundation, 01 Apr. 2014. Web.  Oct. 2014. <http://kidshealth.org/parent/medical/digestive/cf.html>.

"Cystic Fibrosis Sufferers Offered Hope by Gene Therapy Treatment." The Telegraph. Telegraph Media Group, 28 Sept. 0016. Web. Oct. 2014. <http://www.telegraph.co.uk/health/healthnews/4639764/Cystic-fibrosis-sufferers-offered-hope-by-gene-therapy-treatment.html>.

"Cystic Fibrosis and Gene Therapy." Cystic Fibrosis and Gene Therapy. N.p., n.d. Web.  Oct. 2014. <http://www.ndsu.edu/pubweb/~mcclean/plsc431/students98/senn.htm>.

"Ethical and Social Issues in Gene Therapy." Ethical and Social Issues in Gene Therapy. N.p., n.d. Web.  Oct. 2014. <http://www.genetherapynet.com/ethical-and-social-issues-in-gene-therapy.html>.

"FAQs about the Cause, Diagnosis, Treatment of Cystic Fibrosis & More | CF Foundation." FAQs about the Cause, Diagnosis, Treatment of Cystic Fibrosis & More | CF Foundation. N.p., n.d. Web.  Oct. 2014. <http://www.cff.org/AboutCF/Faqs/>.

"Future Therapies and Cystic Fibrosis." Future Therapies and Cystic Fibrosis. N.p., n.d. Web.  Oct. 2014. <http://www.cfmedicine.com/htmldocs/CFText/newtherapy.htm>
"Gene Therapy Adeno-Associated Virus (AAV) Vectors Explained." Gene Therapy Adeno-Associated Virus (AAV) Vectors Explained. N.p., n.d. Web. Oct. 2014. <http://www.genetherapynet.com/viral-vectors/adeno-associated-viruses.html>.

OFFLINE:

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