Human Genome Project Paper

The Human Genome Project(HGP) provided valuable information that changed biology and medicine. Beginning in the 1990’s a research project was created with the intent of determining the sequence of nucleotide base pairs that made up human DNA. The Collaboration was key to completing this project, it was an international project that required, funding, certain technologies, and research methods. The Human Genome project provided important information that benefited medical science. This project helped scientist understand different genetic diseases that plagued mankind and opened the doors to many other scientific findings. Although the Human Genome Project was met with initial resistance it has proved to be significant in many aspects of science.

A careful process was used to protect the identity of the participants. Volunteers were chosen from a diverse population, they provided blood samples which were the source of the DNA used for sequencing (Tsui et al 2001). The HGP sought to identify the genes in human DNA and determine the sequences of the three billion base pairs that make up human DNA. Human DNA was fragmented and cloned in bacteria, which were then replicated and stored the DNA ensuring that it was prepared for sequencing. This method allowed each BAC clone to be mapped which determined where the DNA comes from in the human genome (Tsui et al 2001). Each BAC clone was sequenced; they were cut into smaller pieces about 2,000 bases in length called subclones. Subclones then carried out a sequencing reaction, the product from the reaction was loaded into a sequencing machine which generated base pairs. A computer was then used to put the adjoining stretches of the sequence together, which represented human DNA in the BAC clone. It was clear tools and technologies for mapping and sequencing would need to be developed in order to complete this project. The DOE capitalized on its ability in advanced computation and instruments to advance into modern biology, the influence of these technological advancements became essential for projects like the HGP (Galas et al. 2017).

At the age of two Alexis and Noah Beery were diagnosed with cerebral palsy. As the twins got older their symptoms did not match their diagnosis. The children experienced involuntary muscle contractions and spasms they were each given L-dopa which was a drug found to relieve their symptoms. As a result, the twins were diagnosed with Dopa Responsive Dystonia (DRD) which is the reduction in the amount of dopamine causing tremors and problems associated with movement. The children were able to function normally and go back to school. At age fourteen, however, Alexis beery developed a cough and exhibited breathing problems. It was clear L-dopa was not working, the last option was genome sequencing. DNA was extracted from the twins, an unaffected sibling, and the parents. The two genes known to cause DRD were negative, but one specific mutation stuck out Sepiapterin reductase (SPR) which was inherited from their parents. The mutated SPR gene disrupts the cellular pathway that is responsible for dopamine and serotonin. In addition to L-dopa, both children were prescribed 5-HTP to treat their serotonin and dopamine deficiency (Bainbridge et al. 2011). Results were seen almost immediately the twins did not exhibit any symptoms like coughing or movement issues, they were able to go back to school play sports and function normally. The HGP played a significant role in properly diagnosing the Beery twins. Researchers