The Human Genome Project is a worldwide project and to understand the genomic sequence of human DNA. The main goal for the Human Genome Project is to obtain a complete 3 billion DNA sequencing base pairs and the location of human genes. The genetic information that is stored in human as DNA sequence because even though all the genome in humans is the same, but the sets of chromosomes which replicate make us different from others. The Human Genome Project was launched in 1990 in order to the complete genomic sequence of a human being. Understanding the structure of DNA is crucial before proceeding the project. As James Watson and Francis Crick mentioned in the article, Nature, “Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid.” Human genes are made up of four nitrogenous base pairs adenine, thymine, cytosine and guanine arranged in long twisted DNA. The Human Genome Project promised to bring benefit to medical field and treat genetic diseases. The Human Genome Project brought the technologies to a new level for scientists and gave more opportunities for researchers to discover the relationship between human gene with different drugs and/or diseases.
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Firstly, before the Human Genome Project proceeded to obtain the DNA sequence in the human body, they first completed the genome sequence in E. coli in animals to get an idea of how genes are regulated. E. Coli are group of harmless bacteria found in the intestines of humans and animals (NIH). One of the finest discoveries of James Watson and Francis Crick was the structure of DNA model and published on April 25, 1953 in Nature article. DNA structure has to have complementary pairs of one purine and one pyrimidine. Adenine and guanine which are purines always pairs with nitrogenous bases thymine and cytosine which are pyrimidine. “It has not escaped our notice that the specific pairing we have postulated immediately suggests a possible copying mechanism for the genetic material” (Nature, pg 737). This discovery of DNA structure by Watson and Crick helped the scientists to proceed the Human Genome Project.
Secondly, since the Human Genome was a massive project that needed funding to complete the project. The Human Genome Project was funded by the National Institute of Health and Department of Energy which brought scientists together from different countries to team-up on this massive task of sequencing DNA of first human genome (NHGRI). United States distributed their work on sequencing of the Human Genome Project to the United Kingdom, France, Germany, Japan and China to complete the project within the time frame Congress anticipated. US Congress anticipated that it would cost approximately $3 billion but it ended up costing $2.7 billion (NHGRI). Francis Collins was appointed as the head of the National Human Genome Research Institute. (NHGRI). The project was completed in 2003, two years earlier than estimated time frame.
Since, the Human Genome Project was publicly funded to all the scientists that were involved in this project to obtain the first DNA sequence of a human body. Back in those days, there were not many advanced technologies present that would have helped scientists to complete the project faster. Scientists across the globe used multiple techniques including well-known electrophoretic technique. Frederick Sanger who invented electrophoretic technique and won a Nobel Prize in Chemistry in 1980, which was advanced technology back in the 1970s (BiteSize Bio). This electrophoretic technique helped scientists to speed the sequencing process and it was a more effectual technique to sequence the DNA with the help of glass capillary electrophoretic technique. Glass capillary electrophoretic technique is unique in such a way that if there is an error in computer when obtaining the result, the computer will not proceed to obtain additional nucleotide which could had delayed the project. Glass capillary electrophoretic technique helped scientists to store the DNA result in a computer for further studies of the relationship between human genome and drugs. This technique was effective that it significantly shortened the time to obtain the genomic sequence of one individual.
Another technique was cloning, this technique was used because it provided multiple copies of DNA by cleaving at specific sites of the nucleotide. This technique is also useful for researchers to provide drugs that could possibly cure diseases. PCR is the most common technique used by many researchers in the laboratory. This technique helped scientists to study the DNA sequence of human gene and it provided the information of the diseases. PCR helped amplify DNA and then used Sanger method electrophoresis to visualize the data. (Khan Academy). PCR and cloning techniques go hand in hand. As mentioned above, PCR provides information to the diseases and cloning help with possible treatment to the diseases. Maxam-Gilbert sequencing technique was named after their name Allan Maxam and Walter Gilbert. This technique used by scientists for DNA sequence which helped cut the nucleotide sequence at specific bases using chemical degradation (Britannica.com)
Finally, in 2003, the Human Genome Project achieved their goal of completing first genomic sequence of human DNA which contained 20,000 to 25,000 genes. The project was completed within 13 years less than 2 years Congress estimated. After completing the first human genome DNA sequence, scientists wanted to determine the mechanisms of genome sequence on how to cure diseases that can be life threatening for people by understanding the DNA sequence. Determining how to read genomic sequence gave researchers a better understanding of each individual health need and discover the best treatments for diseases. “In 1993, scientists tested the gene treatment for patients with cystic fibrosis” but unable to treat the patient with the precise medication (NHGRI, CF). Since then scientists knew there is a lot of work needed to be done. Back in those days, there were not many treatments option for cystic fibrosis which increased the dead rate. Cystic fibrosis causes thickening of mucus in airways which causes respiratory congestion and welcomes infected-causing bacteria (Silverthorn, Human Physiology 2015). Cystic fibrosis transmembrane regulator (CFTR) is a protein channel that allows chloride and water to be released in and out from the cells. People with cystic fibrosis disease unable cystic fibrosis transmembrane regulator protein channel to function properly which causes thick mucus in the airways (Silverthorn, Human Physiology 2015). Thus, affecting various organs such as stomach for digestive system and lung damage causes respiratory failure. Scientists are still under research to find the best treatment for cystic fibrosis transmembrane regulator to function normally. This project also opens the door for pharmaceutical industries and discover the best medications for diseases such as multiple sclerosis, cystic fibrosis and other diseases based on the response of human genome to the drugs.
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The Human Genome Project was one of the biggest projects that the United States collaborated along with other countries to obtain roughly 20,000 to 25,000 human genes. The research concerning human genome is still continuous and researchers are pursuing to determine how human genome affects a person of certain diseases such as cystic fibrosis, cancer and other diseases. Researchers are also determining how certain drugs will respond to certain diseases due to thousands of protein molecules present in our body. Those thousands of protein molecules are corresponded to each human gene which is why researchers are still working on drugs for certain diseases that are very serious for the body. As I mentioned above, the cause of cystic fibrosis transmembrane regulator protein channel not functioning properly. Someday, the researchers can find the relationship between human genome and drugs to cure the patients with serious diseases with the help of this great Human Genome Project and advanced technologies like CRISPr that can cure patients with life threatening diseases like cystic fibrosis.
- “Human Genome Project.” Wikipedia, Wikimedia Foundation, 8 June 2019, en.wikipedia.org/wiki/Human_Genome_Project.
- “Human Genome Project FAQ.” Genome.gov, www.genome.gov/human-genome-project/Completion-FAQ.
- “Maxam-Gilbert Sequencing: What Was It, and Why It Isn’t Anymore.” Bitesize Bio, 31 Jan. 2018, bitesizebio.com/36696/maxam-gilbert-sequencing/.
- “Polymerase Chain Reaction (PCR).” Khan Academy, Khan Academy, www.khanacademy.org/science/biology/biotech-dna-technology/dna-sequencing-pcr-electrophoresis/a/polymerase-chain-reaction-pcr.
- Nature News, Nature Publishing Group, www.nature.com/scitable/topicpage/dna-sequencing-technologies-690.
- “A Brief History of the Human Genome Project.” National Human Genome Research Institute (NHGRI), www.genome.gov/12011239/a-brief-history-of-the-human-genome-project/.
- “Who Was Involved in the Human Genome Project?” Stories, The Public Engagement Team at the Wellcome Genome Campus, 13 June 2016, www.yourgenome.org/stories/who-was-involved-in-the-human-genome-project.
- ““NIH Fact Sheets – Human Genome Project.” National Institutes of Health, U.S. Department of Health and Human Services, report.nih.gov/NIHfactsheets/ViewFactSheet.aspx?csid=45.
- “What Was the Human Genome Project and Why Has It Been Important? – Genetics Home Reference – NIH.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/primer/hgp/description.
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