Living with a Genetic Disorder
Sofie
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Sofie is 23 years old and she is only expected to live until she is 38 because she has CF. Sofie's has a couple small mistakes in the genetic code of her CFTR gene and those few changes make a huge impact on her life. Everyday this disorder impacts her daily life like she is always is spitting up mucus and she also has to exercise everyday. In the morning she has to do this routine where she clears her lungs. And if she does not do this and fight infection her life expectancy will be much less than 38. Taking long jogs and exercising helps her lungs and that inspires her to keep jogging and just keep waiting for the cure.
Giving the patient Healthy CFTR genes are what the gene therapy mostly consits of. But the aim of the trial is not to cure them but to get the largest safe dose. Lungs are resistant to gene therapy because they have a large surface area that needs to be targeted and they need to keep out unknown particals. It is still realistic for her to benefit gene therapy. And if everything goes well the treatment could be out in the next 4 years. This treatment is like a race against time for sophie. If she does not get her treatment and her lungs do not get treated she could die. So this treatment is very important to her.
Giving the patient Healthy CFTR genes are what the gene therapy mostly consits of. But the aim of the trial is not to cure them but to get the largest safe dose. Lungs are resistant to gene therapy because they have a large surface area that needs to be targeted and they need to keep out unknown particals. It is still realistic for her to benefit gene therapy. And if everything goes well the treatment could be out in the next 4 years. This treatment is like a race against time for sophie. If she does not get her treatment and her lungs do not get treated she could die. So this treatment is very important to her.
Emma
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Emma has cancer. When Emma and her husband were deciding weather to have a child or not at the risk of passing on cancer, they put their faith in genetics and hoped for a cure. This affects her son Jamie because he might have inherited the BRCA1 gene from her. Emma has tried chemotherapy before, but it made her feel really queasy and sorry for herself. It also made her hair fall out. Emma is putting her faith into the drug that is being developed at the breakthrough breast cancer research center because it can treat Emma's cancer without any side effects. The right treatment is determined for a patient by what is going on in their DNA.
Tom
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Tom is 32 years old and he is an alcoholic, Tom started running marathons because it was his way of dealing with the disease. Tom’s biggest accomplishment was when he ran the marathon across the Sahara desert and that symbolizes him being proud to be a human because he was ashamed of himself for awhile. Decoding the human genome offers tom the prospects of understanding the genetics of his condition. Alcoholism as well as other common diseases are caused from mistakes in a human genes and interaction with the environment. Tom is looking for a kit online that will shed light on his genetic makeup. Tom is hopeful of that his test will reveal what contribution his genes made to his alcoholism.