Click on the image below to watch the BBC Documentary "A Decade of the Human Genome"
LIVING WITH A GENETIC DISORDER
Emma’s Story
Emma was diagnosed with breast cancer. Her mother and her grandmother were also diagnosed with cancer. Emma inherited her mothers BRCA1 gene from her mother, which increased her chance of getting cancer. Emma first discovered that she had cancer when she was taking a bath, then she noticed a lump under her left armpit and felt stomach pain. After Emma’s original diagnosis, she was diagnosed again just 2 years after. The chance that Emma would have been diagnosed a third time was one and a million. The dilemma that Emma faced is knowing that her grandmother passed the mutated BRCA1 gene down to her mom, and then she passed it on to her, she didn’t know if she should have kids or not, as she assumed she would also pass that gene. Emma and her husband used genetics to vindicate their decision as to whether or not to have a child, and hoped that it would provide a solution. The mission of DNA sequencing machines are to sequence human genomes that have developed cancer. Scientists are looking for differences between the cancer cells and the normal cells. They can use this information to help develop a cure for cancer. Today, as a result of the increased rate of pace, scientists can now look at 25,000 different cells. Cancer research at the International Genome Consortium can impact lives like Emma’s son because they have learned so much at this facility about cancer, that it may lead the way to better cancer cures. As more information about the human genome becomes available, there will be a more definitive direction to guide patients in terms of treatment. Overtime, most cancers will have some kind of therapy. To determine the right type of targeted treatment for a patient, doctors look at what is going on in their DNA, using a gene chip. In terms of the progress of available treatment(s) for both herself and her son, Emma is most pleased that targeted treatment will be available probably in the next decade or so. At the Breakthrough Breast Cancer Research Center they are developing a drug that is unique because it will treat the cancer effectively, without inducing side effects. Instead of using medieval treatments such as surgery, radiation, and chemotherapy, scientists are turning to developing new ways to treat cancer by not killing normal cells, but the cancerous ones using their knowledge about the genome.
Tom's Story
Tom started competing in marathons, so he could get away from the fact that he is in alcoholic. Tom’s biggest accomplishment to this date is getting away from the addiction to alcohol. This symbolizes that he is getting away from an addiction, which is hard to get away from. The decoding of the human genome offers to Tom the explanation of the genetics of his condition. Alcoholism is caused from mistakes from genes from the surrounding environment. Tom wants to find out if scientists have converted their knowledge of the genotype into effective treatments and when that will happen. This will help to explain if the scientists could help them and many more people with following, new and advanced treatments. He also wants to find out which of his genes contain the mutations that will explain why he had alcoholism. Tom is looking to purchase online a kit to help his genetic make-up. Tom is hopeful that the test will reveal what contributions his genes have made to his alcoholism. Tom is going to the facility run by the medical research council in Oxfordshire to get the knowledge about his genetic condition. Scientists at the medical facility are attempting to identify, one at a time, the genes involved in complex diseases such as alcoholism. Scientists recently have identified a mouse, who’s behavior is quite different than the other mice they have there, in the lab. The scientists have changed in the mice at random, the 1 letter in their genetic code and saw which ones consumed alcohol, to experiment what happens when you switch 1 letter in the code. Two factors that scientists have identified as causes for individuals to become alcohol dependent, after studying identical twins and adoption cases, are genetics and environment. The controlled environments of the cage single out the genetic deposition of the mice in terms of that they give them the choice, not obligated to go to a specific one. The mouse has given Tom a better understanding of his own disease because it helps Tom understand why he was an alcoholic. What specifically happens during the genome wide association studies is that genetic data is taken from people with a particular disease and from people without. They are then compared and contrasted by teams of genetic statisticians. Tom’s test reveals that someone with Tom’s genetic type, has an increased possibility of having alcoholism. The research suggests that there is a 20% increase in a gene he has that he will be an alcoholic. No, there will not be a single gene that determines if you are predisposed to alcoholism because there is CHANCE, there is no certainty that he will be an alcoholic. The results are frustrating to Tom because there wasn’t any certainty of him becoming an alcoholic. The problem that the genetics face in trying to understand alcoholism, as well as trying to understand other common diseases like heart disease, diabetes, and dementia is that, these illnesses are genetically very complex, born of multiple genes, reacting to its environment, affecting everyday life.
Sofie's Story
Sofie is 23 years old, and the life expectancy for someone with CF is 38. One letter of her CFTR gene (4 letters) is wrong. CF affects her lungs and her pancreas. She has to take hours of physio and also take drugs to fight infection. The mucus that is in her lungs gets unclogged and blocks her lungs less. She wants to be as healthy as possible so that if gene therapy becomes a reality, she will benefit from it as much as possible. The gene therapy that scientists have created at the CF gene therapy consortium consists of man-made coffers of the healthy CFTR gene suspended in a fatty liquid. The aim of the trial at the consortium is to work out the largest safe single dose that could be administered in the future. The testing of repeated application will be complete and scientists will be in a better position to understand the effects on patients by Christmas Eve of 2012. Lungs are resistant to gene therapy because they are evolved to keep out unknown particles, and also because they have a massive surface area. It is realistic for Sofie to expect to benefit from gene therapy in her lifetime, because if things go relatively well, it will come out faster. The release of CF gene therapy depends on how well the trials go. Gene therapy is like a race against time for Sofie because her life depends on whether or not gene therapy is released in time for her to benefit from it. If Sofie doesn’t receive gene therapy, her lungs will deteriorate.