The Human Genome Project

  • The start of the human genome project in the late 1980s provided a major boost for the development of bioinformatics.
  • The Human Genome Project (HGP) was the international, collaborative research program whose goal was the complete mapping and understanding of all the genes of human beings.
  • The Project was coordinated by the National Institutes of Health and the U.S. Department of Energy.
  • Additional contributors included universities across the United States and international partners in the United Kingdom, France, Germany, Japan, and China.
  • The Human Genome Project formally began in 1990 and was completed in 2003, 2 years ahead of its original schedule.
The Human Genome Project

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Goals of the Human Genome Project

  • To provide a complete and accurate sequence of the 3 billion DNA base pairs that make up the human genome and to find all of the estimated 20,000 to 25,000 human genes.
  • To sequence the genomes of several other organisms thatare important to medical research, such as the mouse and the fruit fly.
  • To develop new tools to obtain and analyze the data and to make this information widely available.
  • To explore the consequences of genomic research through its Ethical, Legal, and Social Implications (ELSI) program.

Work Scope

  • Generated a high-quality sequence of essentially the entire human genome.
  • It also identified the locations of many human genes and provided information about their structure and organization.
  • In addition to the human genome, the Human Genome Project sequenced the genomes of several other organisms, including brewers’ yeast, the roundworm, and the fruit fly.
  • The Project made the sequence of the human genome and tools to analyze the data freely available via the Internet.
  • Developed a successful Ethical, Legal, and Social Implications (ELSI) program.

Positive Impact

  • The ultimate product of the HGP has given the world a resource of detailed information about the structure, organization and function of the complete set of human genes. This information can be thought of as the basic set of inheritable “instructions” for the development and function of a human being.
  • As researchers learn more about the functions of genes and proteins, this knowledge will have a major impact in the fields of medicine, biotechnology, and the life sciences.
  • The work of the Human Genome Project has allowed researchers to begin to understand the blueprint for building a person.
  • The tools created through the HGP also continue to inform efforts to characterize the entire genomes of several other organisms used extensively in biological research, such as mice, fruit flies and flatworms. These efforts support each other, because most organisms have many similar, or “homologous,” genes with similar functions.
  • By studying the similarities and differences between human genes and those of other organisms, researchers can discover the functions of particular genes and identify which genes are critical for life.
  • The Project’s Ethical, Legal, and Social Implications (ELSI) program became the world’s largest bioethics program and a model for other ELSI programs worldwide.
Human Genome Project Timeline

Practical Applications of HGP

  • Predict and prevent diseases: By knowing which genes predispose people to particular conditions, doctors will be able to predict which people are likely to suffer from a particular disease and  offer a preventive course of action, which may involve medical treatment or lifestyle changes. Furthermore, cures could be found for genetic diseases like cystic fibrosis or sickle cell anaemia.
  • Improved medicine: Personalised medicines can be developed based on the way our individual bodies react to the disease and the treatments, which will be more effective because the medicines will be tailored for our specific medical needs.
  • Accurate diagnoses: Doctors can develop more accurate diagnostic techniques for certain conditions which are difficult to diagnose at an early stage.
  • Improve forensic science: Genetic fingerprinting helps to match a suspect to the biological material found at a crime scene. In the future it could be possible to figure out what a suspect looks like from DNA found at a crime scene e.g. their eye, hair and skin colour.

Limitations of Human Genome Project

The project was not able to sequence the entire DNA found in human cells. It sequenced only euchromatic regions of the genome, which make up 92% of the human genome. The other regions, called heterochromatic, are found in centromeres and telomeres, and were not sequenced under the project.



About Author

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Sagar Aryal

Sagar Aryal is a microbiologist and a scientific blogger. He is doing his Ph.D. at the Central Department of Microbiology, Tribhuvan University, Kathmandu, Nepal. He was awarded the DAAD Research Grant to conduct part of his Ph.D. research work for two years (2019-2021) at Helmholtz-Institute for Pharmaceutical Research Saarland (HIPS), Saarbrucken, Germany. Sagar is interested in research on actinobacteria, myxobacteria, and natural products. He is the Research Head of the Department of Natural Products, Kathmandu Research Institute for Biological Sciences (KRIBS), Lalitpur, Nepal. Sagar has more than ten years of experience in blogging, content writing, and SEO. Sagar was awarded the SfAM Communications Award 2015: Professional Communicator Category from the Society for Applied Microbiology (Now: Applied Microbiology International), Cambridge, United Kingdom (UK). Sagar is also the ASM Young Ambassador to Nepal for the American Society for Microbiology since 2023 onwards.

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