Can genetic diseases like Cystic Fibrosis, Haemophilia and Muscle Dystrophy be cured using Gene

Gene therapy has saved many lives but there also have been other cases where the treatment has not helped cure the patient’s genetic disorder and they have died. Take Jesse Gelsinger for an example. He suffered from an X linked genetic disorder of the liver so he was injected with an adenoviral vector carrying the corrected form of the gene (Couzin & Kaiser, 2005). This treatment was not a success and Jesse ended up dying four days later. He suffered from a massive immune response that was triggered by the use of the adenoviral vector that was injected in him to transport the correct gene into his cells, which caused him to have multiple organ failures and his brain to die.

By using somatic gene therapy, it is possible to improve the pulmonary disease in cystic fibrosis. Somatic cell gene therapy only affects body cells and does not effect the sperm and egg cells, as it does in germ line therapy, this therefore means that will not prevent the disease occurring in future generations. Although this type of gene therapy has be seen to work and increase the life span of a person suffering from cystic fibrosis, it has to be done several times over the patients life because the effects do not last very

DNA has about 12 million single nucleotide polymorphisms and thousands of copy number variants, most of which are not harmful. Sometimes these mutations in genes can cause genetic disorders that end up altering or inhibiting protein function. Gene Therapy focuses on correcting the mutated genes usually by inserting a normal gene into the genome. Researchers treat these diseases this way by repairing dysfunctional gene or by providing copies of the missing gene. They isolate the normal DNA and package it into a vector. Other ways include replacing the abnormal gene with a normal one, repair the mutated gene, or altering the regulation of a certain gene. As of right now, reparative results have been marginal, there is potential of gene therapy treating single-gene disorders.

Cystic fibrosis is known to be one of the most common and deadly diseases in Caucasians, affecting 1 in 2500 children. This percentage results in 30,000 individuals within the United States to be diagnosed with CF. There are over 1900 mutations of this gene that cause a wide variety of severities within this disease. (McCance, Huether, Brashers, & Rote, 2010) Due to its complex mutation and unknown cause, only treating the symptoms of CF have been the main treatment protocol to this disease. Current treatments are cumbersome and expensive providing patients with life expectancy only into their twenties, but usually younger in most cases. There has been specific progress towards a cure involving gene therapy providing hope for a cure to

There are many known genetic diseases in the world. There are different types such as chromosomal and monogenic. Chromosomal disorders are when someone has too many or not as many chromosome as they are suppose to have (46 total chromosomes). Chromosomal disorders can also manifest when there are structural abnormalities. Monogenic disorders are an inherited medical condition caused by a DNA abnormalities. These diseases occur all throughout the world today. Depending on what region of the world you are in depends on what the most common ones are. Cystic Fibrosis has become the most common lethal genetic disease in the United States as of 1999. Although there are treatments available, there is not a known cure, and the effects remain burdensome

possible cure for cystic fibrosis have been unable to show that “gene transfer efficiency” is

“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.”

Genetic diseases are the results of changes in an individual's DNA, usually inherited. An example of a fatal genetic disease is cystic fibrosis (also known as CF). This is the most common fatal genetic disease in the United States, over 30,000 people in the U.S. have cystic fibrosis and about 1,000 people are diagnosed each year. This disease attacks many different parts of the body, but the most affected area is the lungs. Cystic Fibrosis is genetic, has obvious symptoms, and is deadly.

Once this is determined, we will use gene therapy to treat Cystic Fibrosis.  We will use the adenovirus treatment mentioned above, but in order to counter the fact that it doesn’t last long enough, we will propose more frequent dosages of this treatment.  The dosages will be administered with aerosol.  We will have to do research to find the right amount of time to wait in between dosages because if we give them too close together, this will cause too much inflammation.  If this approach does not end up working, we will also consider finding a way to enable the adenovirus once it has been administered.  This would allow the adenovirus to replicate and stay in the patient’s DNA, which could possibly cure CF.  Another option is finding a way to lessen the cell-mediated immune response.  Once we performed research and clinical trials, we would determine which combinations of these options would work to cure Cystic

How is it diagnosed? People with Cystic Fibrosis have between 2-5 the normal amount of salt in their sweat. Doctors can use a sweat test to measure the amount of sodium chloride (salt) in an individuals sweat, the sweat is taken from the person’s leg or arm and taken to a laboratory to be examined. For newborns, doctors are able to measure the amount of a certain protein (trypsinogen)

They affect different age groups and the symptoms are different for each patient. All the patients have salty sweat due to the fact that there is an abnormality in the CFTR protein which affects the normal flow of water ad chlorine in the CFTR protein channel. Other symptoms are coughing, wheezing, lack of breathe etc. this is due to the build-up of thick mucus which affects the air flow in the bronchi and trachea. This disorder also causes problems in the digestive area. This is because of the blockage in the digestive area due to mucus which prevents the transportation of enzymes produced by the pancreas. Proteins, carbohydrates, oils, fats and minerals in your food can’t get digested without these enzymes therefore, this causes complications such as nausea, constipation etc. most of these symptoms happen when a patient is still young such as in the first 24 hours of childbirth. However, some of these symptoms can happen later on in life such as clubbing, male infertility and

Shortly after the discovery of the CFTR gene, efforts were made to develop gene therapy for all CF patients. The intention was to insert healthy DNA so that the protein would be made correctly, but single cells have too short a life span to make a significant difference. (Learning) The next, more practical idea, was to invent a small molecule that would

Every day, babies are born that will suffer from some sort of genetic disease. As science is progressing, those diagnosed with these diseases are approaching an option that could help relieve the symptoms and eventually cure their illness. One of the first clinical trial patients for this new medical discovery was Mr. Robert Calhoun. Mr. Calhoun was a 33-year-old male who suffered from cystic fibrosis. Under direction of Dr. Konstan at University of Cleveland, a research team successfully administered the corrected gene to patient Robert Calhoun through a nasal drip. After a biopsy of the nasal tissue it was determined the protein administered to Mr. Calhoun had replaced the faulty gene. This allowed Robert to cure his cystic fibrosis and lead a more normal, healthy life (“Novel Gene Therapy” 1). While gene therapy offers many great benefits to the medical world, there are still some risks involved in receiving the treatment.

Because of this, gene therapy is used to correct conditions that would fall under the category of genetic flaws.

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.