After discussing with relatives who have completed their at-home DNA tests, I have been able to determine where most of my ancestors are from. Interestingly, I am from Seminole, Anglo-Saxon, and Irish descent. Within the Anglo-Saxon culture, a very rare disease known as hemochromatosis (iron build up in the body), is commonly found here. There are two forms of hemochromatosis, primary and secondary. Primary hemochromatosis is an autosomal recessive disorder – meaning it must be passed down to the offspring from both the father and mother – and us usually linked to a mutation in the hemochromatosis gene (HFE gene.) The disease damages organs by storing excess iron in them and can make them stop working. Secondary hemochromatosis is caused by a non-genetic source such as anemia, chronic liver disease, or frequent blood transfusions. Common symptoms of this disease are fatigue, joint pain, and impotence. One way to ease the symptoms of this disease is to remove blood (and iron) regularly from the body through a process known as phlebotomy.
The Irish side of my heritage has been linked to cases of Cystic fibrosis (a rare condition in which a thick mucus (sputum) clogs the lungs and digestive system, is usually fatal) and is another autosomal recessive disorder. Close to seventy percent of the mutations in Cystic fibrosis show a specific deletion of three base pairs involving the Cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CFTR gene is a protein that is responsible for producing sweat, saliva, and digestive enzymes. An irregularity in this gene results in residue in the product of the Cystic fibrosis gene, but most of the gene pool involves different mutations. This disease not only affects the respiratory and digestive systems but may also cause complications in the reproductive system. Symptoms of this disease include persistent cough, shortness of breath, poor growth, and male infertility. A new, controversial topic regarding technologies is the cloning of DNA. When discussing this, most quickly think about DNA cloning experiments such as Dolly the sheep. However, when talking about cloning, it is usually regarding cloning genes or small pieces of DNA in order to make multiple copies of it. A fragment of DNA is cut from a DNA sequence and restriction enzymes are uses to make a recombinant DNA molecule. This molecule is inserted into a plasmid or a bacterium (phage), and the is then inserted into a bacteria. Bacteria will undergo transformation and will reproduce – producing large amounts of the altered DNA fragments. The main purpose for DNA cloning is to gain a better understanding of how normal genes function in an organism.
The Human Genome Project is another controversial topic in present-day conversation. It is based on the goal of identifying all base pairs in the human genome. By doing this, we would better understand the genetic contributions to human disease and how they develop in the body. This battles many ethical takes – as it may affect the privacy of our genetic makeup. This is essentially where the shift from genetics to genomics occurred. In order to obtain this information, a thin slice of glass or silicon about the size of a postage stamp – known as a microarray – has synthetic nucleic acids arrayed on it. DNA samples are put on the “DNA chip” and matches are read from it by an electronic scanner. While this is new technology, it is quickly advancing and becoming more powerful every other year. This technology is also used to detect variations of DNA as well as expressions of mRNA (messenger RNA) in individual tissues and cells. As of today, around 60 percent of the human genome is public knowledge, and more is anticipated to be uncovered soon. Most of the past genomic breakthroughs are linked to advances in technology during those times.
Based on my research of cloning DNA, I now know that there are many potential uses for it that can help humans. For example, there is potential to manipulate pig DNA to make pig organs more compatible for human transplants. This would quickly reduce the waiting list for organ donations and can potentially save an abundance of lives. While there are ethical conflicts with this agenda, I believe that the benefits outweigh the possible consequences of advancing in molecular cloning.
With the Human Genome Project, I do not see any possible consequences that could ever outweigh the benefits of fully understanding the human genome. By knowing the human genome sequence, we will be able to detect genetic diseases quickly and treat them. Also, we will know which genes cause diseases and we can begin to eradicate certain genetic disorders. There is belief that this is ethically invasive and disturbing our privacy, but I see that this is clearly an opportunity to better the lives of our descendants. The topic of genetics directly conflicts with ethics culturally. Many believe that genetics must be left alone and altering them in any way is an attempt at “playing God.” According to Dennis M. Sullivan, MD, MA at Cedarville University, the two major goals of the Human Genome Project are to predict and diagnose diseases and for medical treatments. No part of the Human Genome Project’s agenda directly tackles ethics. I believe that ethics is the biggest force holding science back. While there are lines that should not be crossed – experimenting potentially harmful things on humans - I think that we will not have the technology available to do that for a long time. In the past, most scientific research was done without informed consent on indigenous populations. While we do not see much of this today, it is still a problem that science faces, and I think this is where the line should be drawn. I do think there is room to advance, but I do understand that it difficult to comprehend the ethical implications of these advancements. Overall, I think that advancing in genetics will be a great way to optimize life on earth. While there are some that believe science must slowdown in order obey unspoken laws, I think the advances we are attempting will benefit humanity and make life better. By improving our understanding and abilities towards genetics, we will be able to combat diseases, extend life expectancies, and detect disorders before they begin.