For biology class we watched the movie “Cracking the Code of Life,” which is about the Humane Genome Project. However there was a lot of recent information because it was filmed before the human genome was fully mapped. However it did contain many extremely sad stories of people (including children) with various genetic diseases. This gave us a reason of why this project was important.
The Human Genome Project is an international scientific research project. The goals of the project are sequencing and identifying all three billion chemical units in the human genetic instruction set, finding the genetic roots of disease, and then developing treatments. Genes are given to you by your parents. Half from your mom, half from your dad. As one of my colleagues at thebiologybubbleblog.wordpress.com put it, “…when you get genes from your parents you get the good, the bad and the ugly.” Genetic diseases can be dominant or recessively inherited.
When someone has a genetic disease that is dominant, you only have to have a parent give you one dominant trait to get the trait. For example, lets say that brown fur in rabbits is dominant. Obviously this is not a genetic disease, however it works the same way. Let’s also say white fur is the recessive trait. If a rabbit had a genotype of F(brown)f(white), Ff, and this rabbit had babies with a rabbit with ff, their is a 50% chance that the baby will be brown and a 50% chance the rabbit will be white. Because brown fur is dominant that means that a rabbit will be brown if it has the genotype of either FF or Ff , while the rabbit will only have white fur if the genotype is ff. If having brown fur was a genetic disease, that means that if even one parent has just one gene for the disease, then the baby has a 50% chance of inheriting the disease. With a recessive disease, the only way to pass it is for both the parents to be at least carriers. In the example, it would be like the white fur was the genetic disease. Even if both parents were carriers, the baby still only has a 25% chance of getting the disease.
In the movie they show how diseases like Tay-Sachs, a disease that affects baby’s by a protein not being created to remove fat from the brain (death usually occurs at age 4), and Cystic Fibrosis, a disease that attacks several organs but especially the lungs and causes respirator issues leading to half the patients dying before they are 30. I learned that by knowing the genetic code when its not functioning, it helps us understand how the gene would function when it is working. For example, lets say you have three wires. One works for a light in the kitchen, one works for a light in the bathroom, and one works for a light in the bedroom. However, you don’t know which wire is for what light. If I were to cut one of the wires and the light in the kitchen were to turn off, I would know that that wire was for the light in the kitchen. I wasn’t sure what the wire did until it stopped working. So when all your organs are working, I can’t tell what the function of the pancreas is. However, when the pancreas isn’t working, no insulin is being made. Now I can say that when the pancreas is working, it is making insulin. By knowing where the gene that causes the disease is located, we have the first step to curing the disease. We know what and where the mutation is occurring.
Now the hard part is correcting the mutation. Even though we know the location of many genetic diseases, that doesn’t mean we can just correct it. No one has been able to figure out how to alter the mutated gene. The gene is getting multiplied millions of times to make new cells. Gene mutation is getting copied along with them. So far drugs have only been able to treat the symptoms instead of curing the disease, so we have a long way to go to actually curing these genetic diseases. However, we have come a long way from before the Human Genome Project.
If you haven’t seen the movie the link is http://video.pbs.org/video/1841308959/.
I hope you learned a little about the Humane Genome Project and the effort to finding cures to genetic diseases. Always remember to KEEP CALM AND LEARN ON.