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Sofie’s Story:
Sofie is 23 years old and the life expectancy for someone with CF is 38. Sofie’s CFTR gene has 4 letters incorrect. This causes her to cough up thick mucus. It affects her health and that her life could be shortened. It impairs her life because she has to exercise and take drugs for her to survive. She has to take medicine for hours and try to take care of her symptoms. Sofie goes jogging everyday which helps clean all the mucus from her lungs. Sofie is motivated to jog because she knows if she keeps her lungs healthy she could benefit from gene therapy. The gene therapy that scientists at the CF gene consortium have created consists of man made copies of healthy CFTR genes suspended in fatty liquid. The aim of the trial is not to cure but to work out the largest safe single dose. The testing of repeated application will be complete next July in 2011. It is hard for scientists to figure this out because lungs are resistant to gene therapy as they have a massive surface area that needs to be targeted and the lungs are known for keeping unknown particulates out of the human body. It is very realistic for Sofie to expect benefit from gene therapy in her lifetime. The release of such a therapy for CF to the public depends on whether the trial goes really well or not. Sofie describes this as a race against time because she needs gene therapy before her condition gets worse. If Sofie does not receive the treatment that she needs her lungs will soon deteriorate.
Sofie is 23 years old and the life expectancy for someone with CF is 38. Sofie’s CFTR gene has 4 letters incorrect. This causes her to cough up thick mucus. It affects her health and that her life could be shortened. It impairs her life because she has to exercise and take drugs for her to survive. She has to take medicine for hours and try to take care of her symptoms. Sofie goes jogging everyday which helps clean all the mucus from her lungs. Sofie is motivated to jog because she knows if she keeps her lungs healthy she could benefit from gene therapy. The gene therapy that scientists at the CF gene consortium have created consists of man made copies of healthy CFTR genes suspended in fatty liquid. The aim of the trial is not to cure but to work out the largest safe single dose. The testing of repeated application will be complete next July in 2011. It is hard for scientists to figure this out because lungs are resistant to gene therapy as they have a massive surface area that needs to be targeted and the lungs are known for keeping unknown particulates out of the human body. It is very realistic for Sofie to expect benefit from gene therapy in her lifetime. The release of such a therapy for CF to the public depends on whether the trial goes really well or not. Sofie describes this as a race against time because she needs gene therapy before her condition gets worse. If Sofie does not receive the treatment that she needs her lungs will soon deteriorate.
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Emma’s Story:
Emma was diagnosed with cancer. Her mother and her grandmother also had cancer. By inheriting the BRCA gene from her mother, Emma increased the chance of getting cancer. Emma first discovered that she had cancer in the bath, she felt a lump under her left armpit. After two years, Emma was diagnosed again with cancer when she was 31. The chance that she would’ve been diagnosed a third time was one in a million. The dilemma that Emma faced knowing that her grandmother passed the mutated BRCA1 gene to her mother and her mother consequently passed the gene down to her was the risk of passing the gene down to her own child. Emma and her husband hoped that there would be a cure one day. The mission of the DNA sequencing machines are to sequence human genomes that have developed cancer. Scientists are looking for the difference between the cancer cell and the normal cell because those differences are mutations and those mutations are in the cancer genes which are driving the cancer. Scientists will be able to look at 25,000 different cancer cells as a result of the increased rate of pace. The cancer research at the Consortium would impact the lives like Emma’s son, Jamie, if he has inherited his mother’s gene fault because it would give them more information to deal with it and help him make decisions. Doctors look for what’s going on in the DNA to determine the right type of of targeted treatment for a patient. Emma is very pleased about that fact there's a targeted treatment for her and that it will also be around for her son if he gets cancer. The drug that is being developed at the Breakthrough Breast Cancer Research Center is very unique because it will treat Emma effectively without the side effects. Scientists are turning to using genome information to develop new ways of treating cancer instead of using medieval treatments such as surgery, radiation, and chemotherapy.
Emma was diagnosed with cancer. Her mother and her grandmother also had cancer. By inheriting the BRCA gene from her mother, Emma increased the chance of getting cancer. Emma first discovered that she had cancer in the bath, she felt a lump under her left armpit. After two years, Emma was diagnosed again with cancer when she was 31. The chance that she would’ve been diagnosed a third time was one in a million. The dilemma that Emma faced knowing that her grandmother passed the mutated BRCA1 gene to her mother and her mother consequently passed the gene down to her was the risk of passing the gene down to her own child. Emma and her husband hoped that there would be a cure one day. The mission of the DNA sequencing machines are to sequence human genomes that have developed cancer. Scientists are looking for the difference between the cancer cell and the normal cell because those differences are mutations and those mutations are in the cancer genes which are driving the cancer. Scientists will be able to look at 25,000 different cancer cells as a result of the increased rate of pace. The cancer research at the Consortium would impact the lives like Emma’s son, Jamie, if he has inherited his mother’s gene fault because it would give them more information to deal with it and help him make decisions. Doctors look for what’s going on in the DNA to determine the right type of of targeted treatment for a patient. Emma is very pleased about that fact there's a targeted treatment for her and that it will also be around for her son if he gets cancer. The drug that is being developed at the Breakthrough Breast Cancer Research Center is very unique because it will treat Emma effectively without the side effects. Scientists are turning to using genome information to develop new ways of treating cancer instead of using medieval treatments such as surgery, radiation, and chemotherapy.
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Tom’s Story:
Tom started competing in marathons because it was his way of dealing with a disease that almost took his life. Tom’s biggest accomplishment was finishing Marathon Diabla and it symbolized that he was a human being. For Tom decoding the human genome offered the prospect of him understanding the genetics of his condition, alcoholism. Alcoholism is caused by mistakes from many genes and their interactions with the environment; Tom wants to find out which of his genes contain the mutation and why he developed alcoholism. He purchases a kit that would shed some light into his genetic makeup. Tom goes to the facility run by the medical research council in Oxfordshire to meet a mouse that will give him and incredible insight on his condition. Scientists at the medical research council are attempting to identify the genes involved in complex diseases, such as alcoholism. The scientists had recently identified one mouse whose behavior was not seen before; the mouse chose the alcohol over water, which is very odd because mice will not go towards alcohol unless forced. At random, they have changed one letter of the gene in the mice to see which ones consume alcohol. By studying identical twins and adoption cases, scientists have identified that half of the causes to alcoholism is environmental and the other half is genetic. The controlled environment singles out the genetic disposition of the by giving them a free choice. The mouse has gave Tom a better understanding of his disease because now Tom knows that it isn’t his fault and he has no control over it. During the genome wide association studies, genetic data is taken from people with a particular disease and from people without a disease. It’s then compared and contrasted by teams of genetic statisticians. Tom’s test revealed that he’s in the middle class, otherwise known as AG. The research suggests that someone with AG type has a 20% increased risk for alcoholism. There will not be a single gene that determines whether or not you are predisposed to alcoholism. There would be many, each one with a tiny effect. These results are frustrating for Tom because he can’t find a one single gene that causes alcoholism. The problem geneticists face in trying to understand alcoholism, as well as other common diseases like heart diseases, diabetes, and dementia is that they are very complex and are born from multiple genes subtly interacting in their environment in different ways in different degrees throughout our lives.
Tom started competing in marathons because it was his way of dealing with a disease that almost took his life. Tom’s biggest accomplishment was finishing Marathon Diabla and it symbolized that he was a human being. For Tom decoding the human genome offered the prospect of him understanding the genetics of his condition, alcoholism. Alcoholism is caused by mistakes from many genes and their interactions with the environment; Tom wants to find out which of his genes contain the mutation and why he developed alcoholism. He purchases a kit that would shed some light into his genetic makeup. Tom goes to the facility run by the medical research council in Oxfordshire to meet a mouse that will give him and incredible insight on his condition. Scientists at the medical research council are attempting to identify the genes involved in complex diseases, such as alcoholism. The scientists had recently identified one mouse whose behavior was not seen before; the mouse chose the alcohol over water, which is very odd because mice will not go towards alcohol unless forced. At random, they have changed one letter of the gene in the mice to see which ones consume alcohol. By studying identical twins and adoption cases, scientists have identified that half of the causes to alcoholism is environmental and the other half is genetic. The controlled environment singles out the genetic disposition of the by giving them a free choice. The mouse has gave Tom a better understanding of his disease because now Tom knows that it isn’t his fault and he has no control over it. During the genome wide association studies, genetic data is taken from people with a particular disease and from people without a disease. It’s then compared and contrasted by teams of genetic statisticians. Tom’s test revealed that he’s in the middle class, otherwise known as AG. The research suggests that someone with AG type has a 20% increased risk for alcoholism. There will not be a single gene that determines whether or not you are predisposed to alcoholism. There would be many, each one with a tiny effect. These results are frustrating for Tom because he can’t find a one single gene that causes alcoholism. The problem geneticists face in trying to understand alcoholism, as well as other common diseases like heart diseases, diabetes, and dementia is that they are very complex and are born from multiple genes subtly interacting in their environment in different ways in different degrees throughout our lives.