Introduction:
- The human genome contains more than three billion DNA base pairs and all of the genetic information is needed to make us. The Human Genome Project (HGP), which operated from 1990 to 2003, provided researchers with basic information about the sequences of the three billion chemical base pairs (i.e., adenine [A], thymine [T], guanine [G], and cytosine [C]) that make up human genomic DNA.
- The HGP was further intended to improve the technologies needed to interpret and analyses genomic sequences, to identify all the genes encoded in human DNA, and to address the ethical, legal, and social implications that might arise from defining the entire human genomic sequence.
- The Human Genome Project (HGP) was a ground-breaking international initiative, considered to be one of the most ambitious scientific projects undertaken in the twentieth century. Planning started after the idea was picked up in 1984 by the US government, the project formally launched in 1990, and was declared complete on April 14, 2003. Level “complete genome” was achieved in May 2021.
- The Human Genome Project (HGP) originated at the Department of Energy (DOE) Meeting in Alta, Utah in December 1984, where the possible use of DNA analysis in detecting mutations.
History:
The HGP has an ultimate goal of identifying and locating the positions of all genes in the human body. A researcher named Renato Dulbecco first suggested the idea of such a project while the U.S. Department of Energy (DOE) was also considering the same project because issues related to radiation and chemical exposure were being raised.
Military and civilian populations were being exposed to radiation and possible carcinogenic chemicals through atomic testing, the use of Agent Orange in Vietnam, and possible nuclear power facility accidents. Genetic knowledge was needed to determine the resiliency of the human genome. Worldwide discussion about a HGP began in 1985. In 1986, the DOE announced its’ Human Genome Initiative which emphasized the development of resources and technologies for genome mapping, sequencing, computation, and infrastructure support that would lead to the entire human genome map.
United States involvement began in October 1990 and was coordinated by the DOE and the National Institute of Health (NIH). With an estimated cost of 3 billion dollars, sources of funding also include the National Science Foundation (NSF) and the Howard Hughes Medical Institute (HHMI).
National and International activities in the HGP:
- The United States leads in terms of effort, cost support and results, followed by France, the UK, and to a lesser extent Japan.
- Specific programs in HGP have been introduced in other countries, including: Australia, Belgium, Canada, Denmark, Germany, Israel, Italy, The Netherlands, Russia and Sweden.
- In addition, there is a growing international collaboration of international organizations involved in the HGP, especially in dissemination of information and informatics and in mapping and sequencing.
Major international organizations are involved in the HGP:
I. HUGO is involved inception, memberships, funding, administration activities.
II. EMBL is associated with the database coordination (informatics). Development of instrumentations and techniques. It is involved primarily in dissemination of knowledge in various forms {informatics (data banks), information, meetings and workshops.
III. UNESCO, via its International Bioethics Committee, examines the legal, social and ethical aspects of HGP, at the international level.
Who took part in the project?
- The Broad Institute of MIT and Harvard: This institute played a leading role in the HGP, and was responsible for producing a significant portion of the finished genome sequence.
- The Wellcome Trust Sanger Institute: This institute, based in the UK, was also a major contributor to the HGP, and was responsible for producing a significant portion of the finished genome sequence.
- The Human Genome Sequencing Center at the Baylor College of Medicine: This center played a key role in the HGP, and was responsible for producing a significant portion of the finished genome sequence.
- The Genome Institute at Washington University: This institute was another major contributor to the HGP, and was responsible for producing a significant portion of the finished genome sequence.
In addition to these institutions, the HGP also involved researchers from many other institutions around the world, including universities, research institutes, and private companies.
Goals:
- To generate a reference sequence of the human genome: The HGP aimed to determine the complete DNA sequence of the human genome, including both coding and non-coding regions.
- To identify all of the human genes: The HGP aimed to identify and map all of the genes in the human genome, and to determine their functions.
- To improve medical diagnosis and treatment: The HGP hoped to use the information generated by the project to improve the diagnosis and treatment of genetic diseases, and to develop new therapies for these conditions.
- To increase understanding of human evolution: The HGP aimed to use the information generated by the project to increase our understanding of human evolution and the relationships between different populations.
- To provide a resource for scientific research: The HGP aimed to create a publicly available resource that would be useful for researchers in many different fields, including biology, medicine, and agriculture.
Applications:
Medical diagnosis and treatment: The information generated by the HGP has been used to improve the diagnosis and treatment of genetic diseases, such as cystic fibrosis and sickle cell anemia. It has also been used to develop new therapies for these conditions, such as gene therapies.
Personalized medicine: The HGP has led to the development of personalized medicine, in which treatments are tailored to an individual’s specific genetic profile. This can help to improve the effectiveness and safety of treatments.
Drug development: The HGP has provided a wealth of information that has been used to develop new drugs and to optimize existing ones. It has also been used to identify genetic risk factors for certain diseases, which can help to guide the development of preventive measures.
Agriculture: The HGP has provided a better understanding of the genetic basis of plant traits, which has been used to develop crops with improved yields, resistance to pests and diseases, and tolerance to drought and other environmental stresses.
Environmental applications: The information generated by the HGP has been used to study the genetics of species that are important for the environment, such as endangered species or species that are vectors for diseases. This can help to inform conservation efforts and disease control efforts.
Forensics: The HGP has provided a reference genome that can be used in forensic analyses to identify individuals from DNA samples.
Ethical, legal, and social implications (ELSI): The HGP has also led to a number of important ethical, legal, and social implications that have been the subject of ongoing debate and discussion. These include issues related to privacy, discrimination, and the potential for the misuse of genetic information.
Key Words:
Reference:
- Lopes G.S., Sela Y. (2017) Human Genome Project. In: Zeigler-Hill V., Shackelford T. (eds) Encyclopedia of Personality and Individual Differences. Springer, Cham. https://doi.org/10.1007/978-3-319-28099-8_724-1
- National Research Council (1988) Mapping and Sequencing the Human Genome (Natl. Acad. Press, Washington,DC).
- Cook-Deegan, Robert (1994). The Gene Wars: Science, Politics, and the Human Genome. New York: W W Norton
- DeLisi C. Meetings that changed the world: Santa Fe 1986: Human genome baby-steps. Nature. 2008 Oct 16;455(7215):876-7. doi: 10.1038/455876a. PMID: 18923499.