Sophie
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Sophie has cystic fibrosis. Cystic fibrosis makes it hard to breath and a lot of mucus builds of in her lungs. It makes it hard to do things other people usually do. She has to exercise a lot to help with her mucus, like jogging, to keep her lungs as healthy as possible. Sophie takes many of drugs to try and fight off infection. She wants to know if the genetic revolution might help deliver a good health treatment. She has turned to the entire collection of the unique publication at the Welcome Center in London, which represents one single human genome. She also goes to the CF gene therapy consortium. The aim of the trial is not to cure him but to work They created a man made liquid that could be gene therapy. She wants to know how our knowledge in the human genome is helping scientists develop one of the most exciting technique in medicine. Sophie is 23, and the average life expectancy in people with cystic fibrosis is 38. Her CFTR gene contains small mutations which makes genetically incorrect. Gene therapy is like a race in time for Sofie, so she can benefit from it before she gets worse. And if she doesn't receive such treatment as gene therapy, her lungs will deteriorate that far.
Emma
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Emma was diagnosed with cancer. Emma's mother and grandmother both had cancer as well. Inheriting the BRCA 1 gene from her mother gives Emma a bigger chance of passing that gene to her son. When Emma discovered she had cancer she was in the bath tube and felt a lump under her arm. This was two years after her original diagnosis. It was a one in a million chance that Emma would be diagnosed a third time, but sadly she did. Emma knows that she has a chance of giving the BRCA 1 gene to her son, which made it hard for her to decide to have a child. Her and her husband went to a doctor to see the chances of their child having the BRCA 1. The DNA machines are trying to sequence human genomes that develop cancer. The difference between cancer cells and normal cells is cancer cells because these differences are the mutations in the cancer genes which are driving the cancer. Scientists will be able to look at over 25 thousand cancer cells if the rate of pace increases. Cancer research at the Consortium will impact live such as Emma and her so Jamie by having the information to figure out a cure for the mutated gene. As times go on the unserinty of cancers like Emma's cancer will be a lot easier. To determine the right type of treatment for a patient doctors look at the patients DNA. Emma is most pleased about the progress because she didn't think that the treatment needed was going to be available for the next 20 years! The drug being developed at the Breakthrough Breast Cancer Research Center is unique because the medicine they use dose not have any side affects. Instead of using medieval treatments like surgery, radiation, and chemotherapy they are turning to a drug without any side affects.
Tom
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Tom started competing in marathons because it was his way of competing with his disease that almost cost him his life. Toms biggest accomplishment is running Marathon des Sables which is a marathon that is 150 mils and 5 days. for him it symbolizes that he is human. Decoding a human genome gives Tom a understanding of the genetics in his condition. Alcoholism is caused from a mistake on many genes and there interactions on the the environment. Tom wants to find out which of his genes contains the mutations that might help explain why he developed alcoholism. Tom wants to purchase a kit that will show his genetic makeup. Tom is hopeful that his test will show a contribution his genes have made to his alcoholism. Tom is going to the facility run by the medical research council in Oxfordshire because he is going to meet a mouse with similar conditions. At the medical facility scientists are attempting to identify the genes included in his disease. Scientists have recently identified one mouse who's behavior is u like anything they have ever seen. At random scientist changed the water with alcohol to see which animals can have alcohol and which can not. Around half of what makes people alcoholics is genetics and half environment. The mouse has given Tom a better understanding of his disease by giving him a better understanding in the 15 minutes he was there. During the genome wide association studies genetic scientists study a particular disease. Toms test reveals one of his genetic codes has an A genotype than a G. The research suggests that someone with his genetic type has an increased risk but only by 20%. There will not be a single gene that determine if you have alcoholism, there are many genes that determine weather you have alcoholism. This result is frustrating to Tom because the particular gene has small studies on it. The problem geneticist face is they are just starting to understand alcoholism because it's so complex.