Cystic Fibrosis

.. o a human. These were milestones in finding a cure or a preventive treatment. They were huge steps because it marked the first time that scientists were able to test new technology in people with the disease. Also in October of 93’12 scientists at the University of Iowa made another big step, they determined that the CF gene treatment worked! It had repaired the defective CF cells.

This too was the first time that the basic defect was corrected in people with the disease. Doctors and scientists know that the gene number 7 is the gene that CF is found upon. They also know that gene’s protein product most likely induces the movement of chloride directly or indirectly. They named the protein ,cystic fibrosis transmembrane conductance regulator (CFTR). While scientists and doctors were looking for the gene, they also discovered that there is an abnormality in the DNA of 70%13 of cystic fibrosis cases. That abnormality often called AF508 mutation, is made of the deleting of 3 nucleotides from that gene, that then causes the protein product to be missing an amino acid named phenylalanine at position 508. Doctors are now trying to get to this gene mutation and fix it. Scientists are trying to think of a way to administer healthy CFTR genes to the patients through gene therapy.

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If all goes as planed the DNA injected will help the cells to make the normal CFTR protein and cystic fibrosis will then be terminated. Doctors have many “delivery vans” that deliver the good genes. Doctors transport them in viruses, fat capsules and synthetic vectors14. They are put in the body through the nose or bronchial tubes. Nine human gene therapy research studies are in the works as of now. Six of these nine are using the “delivery vans” to deliver healthy genes to the lungs or the nose.

In one study the patients are given repeated doses of the CF gene therapy treatment to the lungs. While other studies gives repeated doses of the gene therapy to the nasal tissue of the patients. The other studies are using the fat capsules for delivery, another is making the fat capsule in air form and are breathed in by the patients. Putting the good genes in AAV (adeno-associated virus) is another way of getting the genes in the body. In the last study, are also uses the AAV to get the healthy genes into the lungs.

There are about ninety people with CF who have gone through some sort of gene therapy. “There is a long way still to go before we have a cure for cystic fibrosis, but we are moving in the right direction,” says David Porteous of the Medical Research Council’s Human Genetics Units at Edinburgh University. Recently a grant15 has just been given to a company named Aradigm that might get us closer to a better delivery vector. Dr. Igor Gonda, Aradigm’s Vice President of research and development says, “By combining gene therapy with the AERx delivery system, our research could ultimately lead to a broadly-applicable technology for delivery of genes and olignucleotides to the respiratory tract. Diseases which might be treated by such genetic therapies include respiratory infections, lung cancer, emphysema, asthma and cystic fibrosis.”16 Cystic fibrosis is a genetic disorder that affects not only it’s victims, but it’s victims family and friends. Thanks to modern medicine and new techniques, the median survival rate has gone from 8 years old in 50’s to 30 years old in the late 90’s17.

Unfortunately, all this new medication and discoveries has come to late for many people. One such individual is Alex Deford. She died when she was only 8 years old. Her father, Frank, wrote a book based on her life and their many struggles, from ignorant doctors who wouldn’t believe a dying child about a collapsed lung and the disease itself. Many times with any genetic disorder, the parents blame themselves. After all it was their bad genes that caused it.

Actually, when Alex first went into the hospital to get a sweat test, it came back negative, when in reality it was positive. That was back in the early 70’s though. Now sweat tests have few oversights. Cystic fibrosis is a disease that doesn’t take any prisoners. All victims will eventually die from complication due to CF.

There are approximately 30,00018 children and adults that are living with this disorder. Now that scientists have found the gene in which CF is located, new medicines and new therapies will hopefully be invented. Perhaps in the next century, we can say that cystic fibrosis is completely abolished. Maybe the new medications and therapies won’t have to be as painful as they are now. Why should these individuals with CF be made to suffer in order to get better.

Frank Deford says about chest physiotherapy and the disease, “Two thousands times I had to beat my sick child, make her cry and plead..and in the end for what?” Bibliography “About Cystic Fibrosis.” html March 11, 1997. Internet. “AKL And Cystic Fibrosis.” CF.html March 11, 1997. Internet. “Aradigm Awarded Grant From National Institutes of Health.” y0022 1.html March 10, 1997.

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“Cystic Fibrosis.” November 27, 1995. Internet. Deford, Frank. Alex: The Life of a Child. New York: The Viking Press, 1983.

“Facts about cystic fibrosis.” September 21, 1996. Interent. “Gene Therapy.” September 21, 1996. Internet. “How is CF Diagnosed?” March 12, 1996.

Interent. “Medical Complications of Cystic Fibrosis.” ed-compl.html March 11, 1997. Internet. Neglia, Joseph P., FitzSimmons, Stacey C., Maisonneuve, Patrick, Schoni, Martin H., Schoni-Affolter, Franzisca, Corey, Mary, and Lowenfels, Albert B. “The Risk of Cancer Among Patients with Cystic Fibrosis.” The New England Journal of Medicine 332.8 (1995): 494-499. “Progress in Cystic Fibrosis Research.” http://www.cfforg/progress.htm November 8, 1996.

Interent. Raloff, Janet “Ibuprofen Stalls Advance of Cystic Fibrosis.” Science News 147.13 (1995): 197. Ramsey, Bonnie W. “Management of Pulmonary Disease in Patients with Cystic Fibrosis.” The New England Journal of Medicine 335.3 (1996): 179-189. Silverstein, Alvin, Virgina Silverstein, and Robert Silverstein. Cystic Fibrosis.

Chicago: Franklin Watts, 1994. “What is CF?” July 17, 1996. Internet. “Why Does Someone Get CF?” March 12, 1996. Interent.