Sofie’s Story
This is Sofie. Sofie has a genetic disorder called cystic fibroses or CF.
She is 23 years old. The life expectancy for someone with Cf is 38 years old.
What is genetically incorrect with with Sofie's CFTR is that the gene contains small, signifigant mutations. Sofie's health is clinically affected.
Because of cystic fibrosis, Sofie coughs a lot which physically impairs everyday life.
Since cystic fibrosis has so many symptoms and can cause infection, Sofie has to take dozens of drugs.
Jogging is benefits Sofie because it helps clear her chest. All the mucus would stay in Sofie's lungs, so she started to jog which kept her lungs healthy. Man made copies of healthy CFTR gene suspended in a fatty liquid is what the gene therapy that scientists at the CF gene therapy consortium have created consists of. The trial aim was not to cure him but to work out the largest safe single dose that could be administered in the future. In July 2011 the testing of repeated application (biggest, safe, single dose) is complete and scientists are in a position Where they can Determine whether the medicine is making patients clinically better or not. Lungs are resistant to gene therapy. This is because they have massive surface area that needs to be targeted. Also evolved to keep out unknown particles. For Sofie, it is realistic for her to benefit from gene therapy.
If everything goes well at the end of 2012 in two or three years, maybe in regular treatment. Because the average life time for a person with CF is 38 years, if gene therapy doesn't happen in the next few years than her condition would get worse and she could die. If Sofie doesn't receive such treatment as gene therapy, her lungs would deteriorate.
Emma’s Story
This is Emma. Emma was diagnosed with cancer. Her mom and grandmother also had cancer and she inherited it from them. Inheriting the BRCA 1 gene from her mother increased her chances of getting cancer. Emma first found out she had cancer when she was in the bathtub she discovered a lump underneath her armpit. After 2 years of the original diagnosis Emma was diagnosed with cancer again. There was a 1 in a million chance that Emma would be diagnosed with cancer for a 3rd time. Emma was faced with a dilemma when her grandmother passed the BCRA 1 gene to her mother and her mother to her. The dilemma was to have kids or not. If she had kids there would be a good chance that she would pass the BCRA 1 gene down to her kids and they would be diagnosed with cancer. Emma decided to have kids. Emma and her husband put their faith in genetics. The mission of DNA sequencing machines is to sequence human genomes that have developed cancer. Scientists are looking for the difference between the cancer and the normal because those are the mutations and those mutations are in the cancer genes which are driving cancer. Today scientists will be able to look 25,000 cancer cells. The consortium will impact Emma's son Jamie because in 20 years the scientists will be in a different position. At the consortium the research will impact lives like Emma's and her son lives because in 25 years with the respect of treating and curing cancer there could be a cure. As time goes on it is probably going to be the case that the majority of cancers will have some kind of targeted therapy. Emma is very pleased about the progress of available treatments, she thinks it's amazing because her original thoughts were that there would not be a cure. THe drug that is being developed is unique because it is one of the most cutting edge trials for the treatment of breast cancer today. Instead of using medieval treatments such surgery, radiation, and chemotherapy scientists are killing cancer cells.
Tom's Story
This is Tom. Tom started competing in marathons because it was his way with dealing with a disease that almost cost him his life. One of Tom's biggest accomplishments is completing the Des sables marathon. Decoding the human genome will offer Tom the prospect understanding of the genetics of his condition. Alcoholism is caused by mistakes in many genes and their interaction with the environment. Tom wants to find out which of his genes contain the mutations that might help explain why he developed alcoholism. Tom is looking to purchase a kit online that will shed some light on his genetic makeup. Tom is hopeful that his test results will reveal what contribution his genes have made to his alcoholism. Tom is going to a facility to meet a mouse. Scientists are attempting to identify one at a time the genes involved in complex diseases such as alcoholism. Scientists have recently identified that one mouse who's behavior is unlike anything anyone has seen before. Scientists have changed one letter, they did this to look to which consumed alcohol. By studying identical twins and adoption cases scientists have discovered that half of what make people alcoholic and half the reason is the environment. The controlled environment of the cage single out the genetic disposition of the mice allows the mice to make free choices. The mouse has given Tom a better understanding that drinking alcohol was his choice. During the genome wide association studies genetic data is taken from people with a particular disease and from people without that disease then it is compared and contrasted by teams of genetic statatitions. Tom's test reveals the progress that genomic science has made. Research suggests somebody has a 20% risk of developing alcoholism. There will be many genes to determine if you are predisposed to alcoholism but each one will have tiny effect. Tom's results are frustrating him because the really didn't show anything. The problem geneticists face in trying to understand alcoholism, as well as trying to understand other common diseases like heart disease, diabetes, and dementia is that the are very complex, born with other genes suddenly interacting with one another with the environment and in different ways, and to different degrees