Sofie- Sofie has a disorder called Cystic Fibrosis which is caused by a difference in the CFTR gene. Her disorder causes excess mucus to be produced, and prevents the immune system in the lungs from working as effective as a normal person’s would. There is a 100 book collection that contains the information in one single human genome. Sofie has only four letters wrong out of the 28,000 letters in 100 books that define a gene. This gives her Cystic Fibrosis. Cystic Fibrosis targets the lungs and pancreas. Sofie has to use drugs to prevent infection and do hours of Physio to remove mucus from her lungs. She runs every day to help keep her lungs stay in good condition, so that she could be possibly be saved by gene therapy in the future. Someone with CF has a life expectancy only 38 years, Sofie is 23 years old. Sofie wants to know if she can be saved by gene therapy before her health declines even further. A young boy named Reese Evans has been saved from certain death by common cold by gene therapy. Reese was a “bubble baby”, which means his immune system was not up to the task of defending his body from invading microbes. Since the doctors at Great Ormond Street Hospital could not find a bone marrow donor match, they came up with another plan. The doctors removed a tiny bit of bone marrow from Reese. Bone marrow is responsible for creating the white blood cells that are vital to the immune system, so the faulty gene must be in there. The bone marrow was then soaked in a solution in which man made copies of healthy cells were suspended. The healthy cells then repopulated the immune system, and after about a month or so, Reese’s immune system was as strong as an ox! This treatment has not been applied to Cystic Fibrosis, but in the near future, we may be able to permanently cure CF patients! This means that Sofie may be able to be saved by gene therapy, but this may not happen soon enough. The scientists at the CF consortium are trying to find a cure for CF patients. Currently, the consortium is trialing a simple inhalant consisting of man-made copies of the correct gene suspended in a fatty fluid with will be used as an inhalant to hopefully change the incorrect copies of the genes in a CF patient’s genome to the correct version. If things go as well as they are going right now, then this disorder will start to give up it’s secrets by Christmas Eve, 2012. So if everything goes well, then Sofie may be able to eventually live a normal life. But two things are preventing this cure from working. Lungs have an enormous surface area that would need to be treated, and lungs have evolved to be highly resistant to foreign substances. Sofie is battling against time, if gene therapy is not available in the next few years, then Sofie’s lungs will deteriorate even more, and nothing may be able to save her. At King’s College, there was a scientist who had a theory on gene therapy that could work. If it does work, it could change the way that they treat their patients. Things are going slow for this cure, but hopefully this is only a slow start, and after a few years we will be able to cure Cystic Fibrosis for good.
Emma- Emma has a condition that makes her cells more susceptible to cancer. One night in the bath, Emma discovered a lump under her left armpit. She knew other women who had lumps in the same areas, but she was not one of them. Approximately two years to the day, Emma discovered another tumor. Emma has had three operations to remove three different tumors. The chances of getting a third tumor after having two tumors already is thought to be roughly one in a million. Her mother died of breast cancer at an age of 32, and Emma’s grandmother died of breast cancer at the age of 42. Emma’s grandmother had a mutated copy of BRCA1 gene. This mutation causes the chances of cancer to increase greatly. Since the BRCA1 gene was passed down to her from her grandmother, Emma might pass on the gene to her baby. Emma has been through so much that she would never want to put someone else through that. But she and her husband put their faith in gene therapy, and had a baby. They hope that if their son Jamie has inherited the mutant BRCA1 gene, and if he gets cancer, there will be a cure without side effects. At the Sanger Institute in Oxfordshire, an international experiment is taking place. This facility has helped to unlock the human genome, and is now helping to shed some light on the little black box of cancer. Scientists at the institute take cells from tumors in cancer patients, and then some normal cells from the same patient. They then compare and contrast the cells to see what is different in their genome. When that happens, scientists can see the differences between cancer cells and regular cells, so they can make targeted treatments. Sequencing a human genome used to take about ten years, now, it takes only three weeks. This has made affordable care for cancer possible in the future. The cure would be more effective than any other past choice, so the right choice would be obvious! Emma is extremely happy because in twenty years, there may be an absolute cure for cancer. In the past, we have used a variety of ways to temporarily cure the super disease of cancer, but all of them have side effects that could be potentially dangerous to the human body. Surgery may be too risky cut out tumors that are developing near important areas of the body, radiation therapy would require a nuclear reactor for research and a person who has a variety of tough to get degrees. Of course, the operation might not work or might cause MORE cancer! The last treatment, chemotherapy, uses poison to destroy fast-duplicating cells, but not just cancer duplicates that fast. Blood, hair and gut cells also replicate fast, and the treatment could be harmful to an unborn baby. But, using the knowledge we have unlocked about the human genome, we can begin to create targeted cures that will destroy only cancer cells, and not vital systems. At the Breakthrough Breast Cancer Research Center in London, a scientist named Allen Ashwell and his colleagues have created a medicine that might just be the magic silver bullet that can defeat cancer for ever. The drug prevents cells from being able to repair natural mutations. That might sound bad for the normal cells, but in small doses, the cancer cells lose the ability to repair their DNA, which causes the cells to rapidly mutate, and then become unstable and die, while the normal cells are left wondering what the heck happened to their neighbors. Eventually, we will unlock the secrets of cancer and create a universal cure for this disorder, but for now, all we can do is keep fighting to help cancer patients survive.
Tom- Tom is an ex alcoholic with a disorder called alcoholism that increases your chance of becoming an alcohol addict. It is caused by a difference in the human genome, like many other disorders. Tom has recovered from his addiction, and has recently ran the marathon de sable, thought to be the hardest race on earth, and is planning to row across the Atlantic ocean. These races are Tom’s way of dealing with his disorder. Tom is hoping to be able to use gene therapy to correct his genome. In a facility run by the medical research council in Oxfordshire, in a city of enclosures in ward 6, there resides a being that is in Tom's same predicament. In the facility, scientists change a single gene in a standard, generic mouse, and subject them to different tests. The mouse in question is an alcoholic, or an alco-mouse. This mouse choses the 10% alcohol solution about 85% of the time over choosing water. Scientists have discovered the one genome in a mouse that causes alcoholism, but it may be different in humans. Research shows that a person’s dependency on alcohol is caused by two factors, genetic influence, and the influence of the environment. The facility takes out all of the outside interferences so the gene will be the only influence. The mouse has shown Tom that it is not entirely peer pressure that caused him to drink so much. After his insightful meeting with the little rodent, Tom decides to purchase a spit test on the internet to hopefully shed some light on what part his genes have played in his predicament. A special specimen vial is mailed to him, and he just lathers up some of that good old mixture of water and mucus, and spits it into the vial! Then, he ships the precious liquid to the company that gave him the vial and they run it through a machine that basically tells the researchers what his genome is. The research tells tom that he has an increased risk of 20% that he will end up with an addiction to alcohol. However, there is not a single gene that can cause alcoholism. Tom could have gone on without knowing about that, and really didn’t need to waste his money on the spit test. Many of the disorders that scientists are trying to cure is that they are extremely complex and their genes act so differently that it is hard to comprehend what happens on a day to day basis.
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Pictures By Lindsey M.
Pictures By Lindsey M.