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Tom
Tom is an alcoholic, Tom started competing in races to help him deal with his disease. Tom ran the worlds hardest race this symbolized him becoming a new man.The decoding of the human genome gives Tom the prospect of further understanding his diseases. Alcoholism is caused from mistakes on many genes and his interaction with the environment. Tom wants to find out if scientists will be able to convert their knowledge of the human genome into effective treatment it will provide insight into his disease. Tom is hoping to buy a kit to find his genetic makeup. Tom went to a medical research facility in Oxford to see a mouse with alcoholism ; They are attempting to identify the genes involved in diverse diseases. The scientists have discovered a mouse with alcoholism. They changed a single letter in the mices genetic code. Scientists have discovered through twins that alcoholism is half genetic and the other half not. The mouse in the controlled environment have no pressure over other mice to chose one thing or another. This showed Tom that his disease was genetic and could possibly be cured. Toms test revealed that he had a slightly increased chance of developing alcoholism. Research suggests that some with his gene type has a increase of 20% to become an alcoholic ; There are many genes that each have small effects but together determines if you are predisposed to alcoholism. This is frustrating to Tom because they are not in fact close to finding a gene associated to his disease. The problem understanding these diseases is that they are very complex and they have only scratched the surface.
Tom is an alcoholic, Tom started competing in races to help him deal with his disease. Tom ran the worlds hardest race this symbolized him becoming a new man.The decoding of the human genome gives Tom the prospect of further understanding his diseases. Alcoholism is caused from mistakes on many genes and his interaction with the environment. Tom wants to find out if scientists will be able to convert their knowledge of the human genome into effective treatment it will provide insight into his disease. Tom is hoping to buy a kit to find his genetic makeup. Tom went to a medical research facility in Oxford to see a mouse with alcoholism ; They are attempting to identify the genes involved in diverse diseases. The scientists have discovered a mouse with alcoholism. They changed a single letter in the mices genetic code. Scientists have discovered through twins that alcoholism is half genetic and the other half not. The mouse in the controlled environment have no pressure over other mice to chose one thing or another. This showed Tom that his disease was genetic and could possibly be cured. Toms test revealed that he had a slightly increased chance of developing alcoholism. Research suggests that some with his gene type has a increase of 20% to become an alcoholic ; There are many genes that each have small effects but together determines if you are predisposed to alcoholism. This is frustrating to Tom because they are not in fact close to finding a gene associated to his disease. The problem understanding these diseases is that they are very complex and they have only scratched the surface.
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Sofie has cystic fibrosis. She is 28 and the average life expectancy with someone with CF is 38. Just 4 letters are incorrect with her gene and thats what causes the disease. Sofie does hours of physical therapy to take mucus out of her lungs and runs every day; She benefits from this because it clears the mucus from her chest. Sofie gets motivated by the fact that if she does keep running she will get the mucus out of her chest. The gene therapy that scientists use at the CF consortium consists of healthy copies of the CFTR gene, suspended into a fatty liquid. The aim of the trial is not to cure Sofie but to work out a better treatment in the future. Starting in July 2012 it will take at least a year to be ready. Sofie’s lungs are resistant to gene therapy because a massive surface area needs to be targeted and also lungs are evolved to keep out any unknown chemicals. It is realistic to Sofie that she will benefit from gene therapy. If everything goes well treating all CF patients will take 2-3 years. Sofie is in a race against time because the longer it takes for a treatment to come out the worse her lungs are getting; if Sofie doesn’t receive the treatment her lungs will eventually deteriorate.
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Emma
Emma is 30 years old with a son. She was diagnosed with cancer. Both Emma’s mother and grandmother had cancer. Emma inherited the BRCA1 gene from her mother. Emma first discovered that she had cancer when she was in the bath. She was 28 and and she felt a lump under her lower left arm pit. 2 years after her first time being diagnosed with cancer, she was yet again diagnosed a second time. The chances of her getting diagnosed with cancer a third time were 1:1,000,000. Emma had a dilemma when deciding to have a family knowing that she might pass the cancer gene to her child. DNA sequencers are on a mission to sequence the human genome that have been diagnosed with cancer; they are looking for the difference between cancer cells and normal cells. The research at the Consortium will help Emma’s son live without cancer if he has the gene. Emma had a lot of uncertainty in which direction to go with her treatment. As more information becomes available about the human genome, there will be clearer path of to do the treatment or not. Emma is pleased that the targeted treatment will be available for her son Jamie. There is a drug being developed at the Breakthrough Breast Cancer research center that will treat cancer effectively without side effects; scientists are turning to a drug that will kill all cancer cells instead of doing the medieval treatments such as surgery, radiation, and chemotherapy.