Cystic fibrosis is a genetic disease that physically impairs one’s everyday life. Sofie, a 23 year old girl, is just one example of somebody with this genetic disease. She may seem like a completely normal girl when you meet her, and in many ways she is; however, cystic fibrosis affects her activity due to every day she has to take dozens of drugs and do hours of physical therapy. Sofie’s CFTR gene contains small but significant mutations, which affects her life, that is expected to be only 38 years long. Sofie jogs every day because it clears all of the mucus from her chest, benefiting her lungs. The motivation for her jogging is the fact that she knows that one day if gene therapy does become a reality, she will be able to benefit from it. Scientists at the CF gene therapy consortium have created a gene therapy consisting of man made copies of the healthy CFT in our gene, suspended in fatty liquid. The therapy is in trial stage with the aim of the trial nto cure the person, by working out the largest cell single dose, that may not be administered in the future. Around some time from July 2011 to Christmas Eve 2012, scientists will be in a place where they can determine whether the medicine is making the patients clinically better or not. Creating a gene therapy that works is hard because lungs are resistant to gene therapy; they have a massive surface area that needs to be targeted and they have also evolved to keep out unknown particles. For Sophie though, it is realistic that she could benefit from gene therapy. In terms of a timeline, the release of such a therapy for CF to the public depends on of the trial goes fantastically or not. If it does it could take only 2-3 year, if it does not it could take much longer. To Sophie gene therapy is like a race against time, that’s because gene therapy will become a reality in the next few years, so she can benefit from it before her condition gets worse. If Sophie doesn't receive such treatment as gene therapy her lungs could deteriorate, a reason she is so desperate for it to become a reality.
Cancer is a disease that many battle to overcome, such as Emma. Both Emma’s mother and grandmother have had the BRCA1 gene that has made it easier for the cancer to get inside of them. There are many different ways to discover that you have cancer and Emma discovered hers when she felt an unusual lump under her left armpit. After the diagnosis, she was diagnosed with cancer again about two years later than her first. Because Emma has had cancer two times already, there was a very small chance, 1 in a million, that she would get cancer again for the third time. Emma realized that if she had a family then there was a risk that her BRCA1 cancer gene would be passed down to others. To vindicate their decision, her and her husband put their faith into genetics and hoped that one day that cancer would be developed. The mission of DNA sequencing machines is to sequence human genotypes that have developed cancer. Scientists are looking for the difference between the cancer and the normal. Those differences are the mutations and they are in those cancer genes which are driving the cancer. There are over 25,000 different cancer cells that scientists are using to increase the rate of pace. The cancer research at the Consortium impacts lives like Emma’s son, Jamie, if he has inherited his mother’s gene because there is more information to deal with it and make the decisions he would need to make in the same way she had to. Understandings and opportunities of treating and preventing have changed a lot from the past. In the future, there will be definitive direction to guide patients in terms of treatment because it is getting to be that the majority of cancers will have some sort of targeted therapy. Doctors look for what is going on in the patients DNA to determine the right type of targeted treatment. Emma is most pleased for herself and her son Jamie because there might be a treatment within the next decade, instead of after 25 years. The reason Emma thinks that the drug developed at the Breakthrough Breast Cancer Research. This center is unique, is because it isn’t inducing the side effects that she doesn’t want. Instead of using medieval treatments such as surgery, radiation, and chemotherapy, scientists are using the genome information to develop new ways of treating the cancer itself.
Alcoholism is a disease that many people battle to overcome, Tom being one of them. Tom started competing in marathons, because it was his way of dealing with a disease that almost cost him his life. His biggest accomplishment to date is that he ran the marathon across the Sahara desert, which to him symbolizes that he felt proud to be a human being, which he had not felt in a long time. Now Tom wants the human genome decoded, so scientist can start understanding the genetics of his condition. Scientists now know that alcoholism (as well as many other common diseases) is caused from mistakes done by many genes and the environment. Tom also wants to find out how his genes contain the mutations that might help explain why he developed alcoholism. To help find out, Tom purchased a kit online that would shed some light on his genetic makeup. He is hopeful that his test will reveal what contributions his genes have made to his alcoholism. Toms test ends up revealing that one of his genes has an A chromosome, while another has a G chromosome. The research about this suggests that someone with that genetic type has an increase risk by about 20% of getting the disease. Unfortunately, there will not be a single gene that determines if you are predisposed to alcoholism. There will probably be many, many of them that have a tiny affect. These results are frustrating for Tom because this doesn’t get them any farther down the line in finding a cure. Tom is going to the facility run by the medical research council in Oxfordshire to find out the results of the spit test he bought on the internet. At the medical facility scientists are identifying genes one at a time involved in complex diseases, such as alcoholism. Recently the scientists have identified one mouses behavior, whos is unlike anything ever seen before. To fnd out this information the scientists have randomly changed one single gene in the mice DNA, to see which ones consume alcohol. By studying identical twins and adoption cases, scientists identify two causes for individuals to become alcohol dependent. Those two factors, are that around half of what make people alcoholism is genetics and half is their environment. The controlled environment of the mices cage singles out the genetic disposition of the mice in terms of what drives their alcohol dependency. This makes it so that the mice can make an entirely free choice of whether to drink water or alcohol, driven just by their genetics. This has given Tom a better understanding of his own disease in 15 minutes than he had gotten in 15 years, because he came in thinking he was just going to look at a mouse, but came out with a better understanding of his own illness. During the genome wide association studies, genetic data is taken from people with a particular disease and from people without. It’s then compared and contrasted by teams of gene scientists. After that they usher in something of a gene gold rush, appearing to identify genes associated with diseases as diverse as potential, obesity, and depression. The problem geneticists face in trying to understand alcoholism, as well as many other common diseases is that these diseases, which many of us will get and many of us will die from, are genetically very complex. They are born of multiple genes suddenly interacting with each other in their environment, in different ways and degrees throughout their lives.