The Human Genome Project (HGP)
The human genome project remains one of the world’s largest collaborative biological projects to be undertaken to date. Twenty different universities and research centres across six countries; including the United States, United Kingdom, France, Germany, Japan, and China took part in the ambitious project. Mapping of the human genome officially began in 1990 and subsequently declared “complete” on 14th April 2003; with 92% of base pairs correctly identified. The final gapless assembly was not finished until more recently, in January 2022.
The Human Genome Project originally aimed to map the complete set of nucleotides contained in a human haploid reference genome, of which there are more than three billion. The genome of any given individual is unique; mapping the human genome involved sequencing samples collected from a small number of individuals and then assembling the sequenced fragments to get a complete sequence for each of the 23 human chromosome pairs (22 pairs of autosomes and a pair of sex chromosomes, known as allosomes). Therefore, the finished human genome is a mosaic, not representing any one individual. Much of the project’s utility comes from the fact that the vast majority of the human genome is the same in all humans.
Applications
The sequencing of the human genome has been beneficial for a variety of disciplines, from molecular medicine to human evolution. The sequencing of DNA, can help researchers understand diseases and contribute to the following:
- genotyping of specific viruses to facilitate treatment accordingly
- identification of mutations linked to different forms of cancer
- the bespoke design of medication tailored to a patient’s genetic makeup, increasing effectiveness and reducing unwanted side effects
- advancement in forensic applied sciences
- biofuels and other energy applications
- agriculture
- animal husbandry
- bioprocessing
- risk assessment
- bioarcheology, anthropology and evolution
The US National Center for Biotechnology Information (and sister organizations in Europe and Japan) house the gene sequence in a database known as GenBank, along with sequences of known and hypothetical genes and proteins.
The Future: Genomics
Advances in faster sequencing and data processing has enabled genomic science to develop exponentially, and many more ambitious projects and collaborations have since been established. For example, sequencing human populations at scale, the Human Cell Atlas, which aims to map all the cells in the body, and the Global Alliance for Genomics and Health, an international alliance aimed at advancing human health through genomic data.
Projects such as the Darwin Tree of Life, have set about sequencing the genomes of a variety of species to gain new insights and knowledge that could lead to more breakthroughs for human and ecological health.
In pathogen surveillance, genomic sequencing enables rapid detection and characterisation of circulating pathogens like dengue and tuberculosis. By analysing the genetic characteristics of pathogens, changes can be made that affect disease transmissibility, severity and the effectiveness of treatment.
Since the completion of the Human Genome Project, the tools and technologies being used in genomics have advanced and evolved at an unprecedented rate. For example, Engineering Biology, is a proliferating division that has readily seen the integration of engineering principles into the field of biology. Ultimately, the development of interventions to improve health and wellbeing from these burgeoning technologies poses additional questions for science and society.
Policymakers often struggle to maintain pace with scientific discovery, and the regulatory environment is dramatically dependant on geopolitical climates. For engineering biology research to thrive, it must be supported by robust policy and regulation backed by ethical guidance. Engaging in discussions with governmental bodies is imperative in making this a reality.
In recent years, genomic techniques such as polygenic risk scores and genome-wide association studies transform our understanding of the genetics of mental health problems. This includes anxiety, depression and most notably schizophrenia. In the future, genomic technologies could help improve our understanding of who might respond positively to medical interventions among these worryingly common, yet misunderstood areas of health sciences.
A special thanks to all the nations, institutions and individuals involved in this gargantuan undertaking.
| No. | Nation | Name | Affiliation |
|---|---|---|---|
| 1 | United States | The Whitehead Institute/MIT Center for Genome Research | Massachusetts Institute of Technology |
| 2 | United Kingdom | The Wellcome Trust Sanger Institute | Wellcome Trust |
| 3 | United States | Washington University School of Medicine Genome Sequencing Center | Washington University in St. Louis |
| 4 | United States | United States DOE Joint Genome Institute | United States Department of Energy |
| 5 | United States | Baylor College of Medicine Human Genome Sequencing Center | Baylor College of Medicine |
| 6 | Japan | RIKEN Genomic Sciences Center | Riken |
| 7 | France | Genoscope and CNRS UMR-8030 | French Alternative Energies and Atomic Energy Commission |
| 8 | United States | GTC Sequencing Center | Genome Therapeutics Corporation, whose sequencing division is acquired by ABI |
| 9 | Germany | Department of Genome Analysis | Fritz Lipmann Institute, name changed from Institute of Molecular Biotechnology |
| 10 | China | Beijing Genomics Institute/Human Genome Center | Chinese Academy of Sciences |
| 11 | United States | Multimegabase Sequencing Center | Institute for Systems Biology |
| 12 | United States | Stanford Genome Technology Center | Stanford University |
| 13 | United States | Stanford Human Genome Center and Department of Genetics | Stanford University School of Medicine |
| 14 | United States | University of Washington Genome Center | University of Washington |
| 15 | Japan | Department of Molecular Biology | Keio University School of Medicine |
| 16 | United States | University of Texas Southwestern Medical Center at Dallas | University of Texas |
| 17 | United States | University of Oklahoma’s Advanced Center for Genome Technology | Dept. of Chemistry and Biochemistry, University of Oklahoma |
| 18 | Germany | Max Planck Institute for Molecular Genetics | Max Planck Society |
| 19 | United States | Lita Annenberg Hazen Genome Center | Cold Spring Harbor Laboratory |
| 20 | Germany | GBF/German Research Centre for Biotechnology | Reorganized and renamed to Helmholtz Centre for Infection Research |
