30 Apr 2022


How the Human Genome Project Has Advanced Our Understanding of Human Genetics and Human Disease

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Genetics is an area of study that many doctors and scientist have decided to explore with different interests. Some of them have aimed to understand how they can encode human genomes. Some scientists have also decided to study human genome with the aim of understanding how it affects life in general. While other doctors ad scientist have studied human genomes with the aim of understanding how they can apply the knowledge in treating or managing various diseases. On the same note, several developments have occurred since the inception of the first project was started. The project has also aimed to improve the benefits of studying human genome. Therefore, this paper an essay evaluating the human genome project and its benefits based on diseases and the projects that emerged since the Human genome project.

Human Genome Project

The human genome project refers to an international scientific research projects that aimed to understand how human genome works to influence people’s lives in the environment in which they live. Their main aim was to determine the DNA sequence of the completely human genome and evaluate various actions of the genome in driving medical benefits. The project was first proposed at the department of energy between1984 to 1986 (Ghoussani, 2015). Similarly, the US Research Council endorsed the genome project in 1988. The National Institute of Health (NIH) funded the research when they decide to set aside $3 billion for the project. The human genome project subsequently took off in 1990 officially. In February 2001, the researchers were able to publish their finding of the first the human genome project ended in 2003. 

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The main goal of the human genome project was to determine the nucleotide sequence of the estimated 3 billion bases available. The researcher has identifies 3 billion DNA bases at the start of the research and so the other function of the project was to determine their sequence and explain how they affect human life in different ways. The human genome project also aimed to identify the entire set of genes and map them to their corresponding chromosomes (Matt, 2000). Similarly, the project also aimed to analyze the genetic variations among humans. The ability to analyze these variations would also make it possible in explaining various diseases and how they can be treated. 

Results of the human genome project

The project found out there were three billion gnome bases just as earlier result found. However, the project reported that there are approximately 21,000 genes in humans, thus number is said to have presented a result that was greater than the previous results by in fourth of accuracy levels. The research also reported that on average, there were approximately 40,000 gene bases and that the gene sizes varied greatly from one person to the nest (Ghoussani, 2015). Moreover, the researcher reported that dystrophin is the largest known human gene and it belongs to the Duchenne muscular dystrophy approximated to have 2.4 billion bases. 

Similarly, the other result from the human genome project proved that the DNA sequence in two people were 99.9 percent identical in nature. Moreover, the functions of over half of the discovered genes were known and could be stated with utmost precision. The project also reported that 1.5 percent of the genomes codes were proteins. The project further showed that the average human gene produced three types of proteins. Similarly, the project reported that the proteome, which is the complete collection of proteins in the cells, is larger than the human genome. The bases guanine and cystosine form the gene rich regions of the genome, whereas the bases adenine and thymine are predominantly found in the genre poor regions of the genome (Ghoussani, 2015). Moreover, genes appeared to be randomly concentrated in areas along the genome, which has vast expanses of noncoding of DNA in between them. Moreover, the human genome project found out that chromosome one has the most genes, approximated at 3,000 genes in total and it showed that the Y chromosome had the fewest genes approximated to 230 genes in total. Furthermore, the research showed that the human genome is estimated to contain over ten million SNPs (Ghoussani, 2015). The genome project also proved that the results could be used in medical treatment of some diseases such as cancer.

The researcher taking part in the human genome project states that even though some people thought that the project was the end, they know that it was just the beginning. Their sentiments were captured after several information emerged of further opportunities created by the human genome project. Some new opportunities that emerged after the close of the project include hap map, ENCODE, comparative genomics as well as the creation of over 1000 t0 100,000 genome projects. The new projects further identified other issues such as the need to understand how the genome works (stewrt, 2008). Similarly, the thought of how to use the results from their genome projects to improve medical delivery. In light to this, the original human genome project proved that their findings could be used to influence medical deliver by coming up with individualized medication for each patient. The type of medical care awarded to each patient also depended on the type of disease that the client suffers from. Similarly, the knowledge of gene and their variations could be applied to field such as molecular and cell biology with the aim of not only improving medication but also understanding the epidemiology of different diseases. 

Benefits of the genome project

The genome project has improved how scientist, doctors, and individuals understand and apply genetics. For example, for people who are not involved in medical field, the human genome enabled them to understand how human genetic play a role in the development of some diseases. This project made it possible for non-science individuals to further understand genetic and how it influences human lives. People came to understand that some diseases are passed down from one generation to the next through inheritance. For example, through the project, people have come to understand that psychiatric conditions such as schizophrenia and bipolar disorders are passed down from one person to the next especially in people with the same lineage. Genetic compositions have also made it possible for people to know why children in the same family may not all suffer from medical conditions such as sickle cell anemia and leukemia.

Human genome and human genetic variation 

Similarly, most people who do not engage in scientific research have heard of the term variation but have never known much about it as well as the role it players in human life (Stevene, 1994). Thus, the human genome project has made it possible for such people to understand that variation refers to the differences in human genes. They have also come to understand that variation plays an important role in a person’s ability to acquire or be resistant to some types of diseases. For example, through the human genome project, some individuals have understood that positive variation can help someone to stay safe from a hereditary health condition such as leukemia and sickle cell anemia. However, negative variation can work in ensuring that a person acquires such type of diseases with ease. Thus, variation is important in understanding how diseases are passed down from one person to the next especially in a family or generational line.

Furthermore, the human genome project also led to the launching of the Hap Map project (Steven & Van Loon, 2005). The Hap Map research made it possible for the researcher to improve understanding of human genetic variations. Doctors, scientist, and individuals came to understand that genetic variation refers to the scientific ability to identify and catalogue genetic similarities and differences in human being. Studies such as genetics is one area in which scientist and human can use to understand genetic variations, similarly, the human genome project also made it possible for people to understand why some families are prone to contacting some disease while others did not. 

As stated above, through genetic variations people have come to understand that negative variation made some people susceptible to some disease (Daniel, 2012). On the same note, negative variation also made people susceptible to acquiring other medical conditions such as cancer, heart conditions, Huntington disease, diabetes, and cystic fibrosis. Thus, the Hap Map project made it possible for people to understand and find the types of genes that affect human health, cause diseases. Similarly, the knowledge of variation also made it possible for scientist and doctors to explain how different people respond to environmental factors and different types of medications. Thus, the project shed further light on why some people react adversely to some types of medication intended to treat or manage some disease while other did not who such similar reactions (Steven, 2000). This type of knowledge helps improve medication through the examination of patient genetics pattern and match it with previous medical reactions from patients with the same genetic composition. 

The human genome project and cancer 

The human genome project was used to understand how genetic variations and inheritance plays a role in passing down some known diseases such as sickle cell, schizophrenia, and bipolar disease is passed from one person to the next. Most importantly, the project also shed more light in the development and treatment of cancer. For example, Ghoussaini (2015) states that, cancer refers to the medical condition that occurs when abnormal cells within the human body divide in a way that cannot be controlled. Similarly, the author reports that for any type of cancer to occur, some changes must take place within the genes of the cell. The study shows further that cancer cells go through two types of mutations; gremlin and somatic mutation. It is clear from the genome project that germline mutation is inherited at conception and is found in every cell of the body. On the other hand, somatic mutation is the type of cell division that arises in one cell and only present in the lineage in which they arise. 

Further studies show that cancer is cause by somatic mutation that takes place in somatic tissues (Ghoussani, 2015). Cancer also occurs due to disruption of cell division or because of tumor development. It is worth noting that somatic mutation is not passed from one person to the next or from generation to generation. However, the human genome project has shown that some heritable genetic variant affect the susceptibility to developing a particular type of cancer. For example, if many people in a family lineage suffered from different types of cancers, for example if an aunt, a grandmother and the mother suffered from breast cancer, then the chances that one of the girls in the lower family will test positive for some form of cancer is very high. The genome project also revealed that cancer occurs due to mutations in genes that regulate major key activities such as growth, differentiation, and proliferation. Three main classes of cancer are known currently ad they include DNA repair enzymes, oncogenes, and tumor suppressors. The project shed more light especially in the spread of breast cancer cells. The researchers have shown that most cancer cells start out as tumor in one place and spread out at an uncontrollable speed. 

Characteristics of drugs

The project showed that doctors could use different types of methods for treating cancers of different types. Through the human genome project, the doctors have been able to know the type of people who should be put on medication and those who should not be on medications (Ghoussaini, 2015). Similarly, using this knowledge, they are able to identify the cancer stages using gene therapy and decide on the type of treatment that they should use. By referring to the results of the human genome project, it is clear that doctors can treat breast cancer by using drugs that has the following effects. The drug should be efficacious and have the ability to kill cancer cells in the specific genes in which they occur. Similarly, the drug should be selectively targeting the cancer cells while having no on little impact on the normal. Similarly, the drugs should have no resistance that is to mean that the drugs should mainly target the CSC and aim to kill the bulk of the tumors and the tumor initiating cells the CSCs (Walid, 2017). 

The drugs should also have immune activating capabilities and be able to recreate the immune system of the patient and make it ale to fight the cancer causing cells. Better still; the doctor can rely on the use of non selective chemotherapy in the treatment of cancer. This is the type of therapy when the doctor uses electric radiations to kill all the cancer cells by targeting the area in which the cells have grown. Similarly, most chemotherapy procedures also aim to ensure that they target the whole body with the aim of killing any cell that might have spread to other parts of the body (Bruce, 2009). On some occasions, the doctors will always have to put soma patient on cancer treatment drugs especially if they find the cancer at its onset of development. It is usually important for the doctors to conduct effective studies on the patient to know the effects of different drugs on them because some drugs are too strong and may cause some adverse effects on the patients.

Human genome project is a scientific research funded by the NIH with the aim of sequencing differ human genes and matching them with the DNA. The project was successful in identifying over 21,000 DNA that had approximately 3 billion bases. The study also found out that the human genes are composed mainly of three types of proteins. The genome are also randomly arranges in the gene rich regions of the nucleus. Similarly, the human genome project leads to the development of the Hap Map project, which looked at the issue of genetic variations. From the Hap Map it was clear that positive variation was essential in helping a person not to be in a position to contact some disease. On the contrary, negative variation made it possible for a person to develop susceptibility to some diseases. The project was important in making it possible for doctors to understand diseases such s leukemia, hunting disease, and different types of cancers, it also made it possible for doctors to know the type of treatment to use for cancer patient.


Bruce, A. (2009). Essential cell biology (3rd Edition). Garland.

Daniel, H. (2012). Essential Genetics: a genomics perspective. New York: Jones & Bartlet.

Ghoussaini, M. (2015). Journeys into the cancer. 943–947: British Journal of Cancer 1 (12), .

Ghoussani, M. (2015). Human Genome: Understanding human genetic variation.  

Matt, R. (2000). Genome: the autobiography of a species. Fourth Estate.

Steven, J. (2000). Genetics for beginners. New York: Icon Books.

Steven, J., & Van Loon, B. (2005). Introducing genetics. New York: Icon Books.

Stevene, J. (1994). The language of the genes. New York: Flamingo Publishers.

stewrt, S. (2008). A Short Guide to the human genome. Cold Spring Harbor: Laboratory Press.

Walid, K. (2017). Cancer therapeitics.  

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