Human Genome Project, an international collaboration that successfully determined, stored, and rendered publicly available the sequences of almost all the genetic content of the chromosomes of the human organism, otherwise known as the human genome.
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 that make up human genomic DNA (deoxyribonucleic acid). The Human Genome Project was further intended to improve the technologies needed to interpret and analyse 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.
How the Project began?
The Human Genome Project was initiated in 1990 under the leadership of American geneticist Francis Collins, with support from the U.S. Department of Energy and the National Institutes of Health (NIH). The effort was soon joined by scientists from around the world.
Science Behind the Human Genome Project
Classical genetics is considered to have begun in the mid-1800s with the work of Gregor Mendel, who defined the basic laws of genetics.
Mendel succeeded in explaining that, for any given gene, offspring inherit from each parent one form, or allele, of a gene. In addition, the allele that an offspring inherits from a parent for one gene is independent of the allele inherited from that parent for another gene.
The field of molecular genetics emerged from the realization that DNA and RNA (ribonucleic acid) constitute the genetic material in all living things. In physical terms, a gene is a discrete stretch of nucleotides within a DNA molecule, with each nucleotide containing an A, G, T, or C base unit. It is the specific sequence of these bases that encodes the information contained in the gene and that is ultimately translated into a final product, a molecule of protein or in some cases a molecule of RNA.
Using data from the Human Genome Project, scientists have estimated that the human genome contains anywhere from 20,000 to 25,000 genes.
Advances Based On the Human Genome Project
Advances in genetics and genomics continue to emerge. Two important advances include:
- International HapMap Project and
- Initiation of large-scale comparative genomics studies.
- The International HapMap Project is a collaborative effort between Japan, the United Kingdom, Canada, China, Nigeria, and the United States in which the goal is to identify genetic similarities and differences between individuals representing four major human populations derived from the continents of Africa, Europe, and Asia.
- Comparative genomics is the study of similarities and differences between different species.
Impacts of The Human Genome Project
- It has enabled the identification of a variety of genes that are associated with disease. This, in turn, has enabled more objective and accurate diagnoses.
- The recognition that human genomes may influence everything from disease risk to physiological response to medications has led to the emergence of the concept of personalized medicine—the idea that knowledge of a patient’s entire genome sequence will give health care providers the ability to deliver the most appropriate and effective care for that patient.
- Impact on law and the social sciences
- The Human Genome Project affects fields beyond biomedical science in ways that are both tangible and profound. For example, human genomic sequence information has revolutionized the field of forensics, enabling positive identification of individuals from extremely tiny samples of biological substances, such as saliva on the seal of an envelope, a few hairs, or a spot of dried blood or semen. Indeed, spurred by high rates of recidivism (the tendency of a previously convicted criminal to return to prior criminal behaviour despite punishment or imprisonment), some governments have even instituted the policy of banking DNA samples from all convicted criminals in order to facilitate the identification of perpetrators of future crimes. While politically controversial, this policy has proved highly effective. By the same token, innocent men and women have been exonerated on the basis of DNA evidence, sometimes decades after wrongful convictions for crimes they did not commit.
Comparative DNA sequence analyses of samples representing distinct modern populations of humans have revolutionized the field of anthropology. For example, by following DNA sequence variations present on mitochondrial DNA, which is maternally inherited, and on the Y chromosome, which is paternally inherited, molecular anthropologists have confirmed Africa as the cradle of the modern human species,
Homo sapiens.
HGP: Read and Write
- The original HGP was a “read” in that it used chemicals and instruments to decipher the genome for the first time.
- Fast forward to 2016 and another project, called the Human Genome Project–write (HGP-write), now underway to synthesise a human genome from scratch. The start of a 10-year project is aimed at vastly improving the ability to chemically manufacture DNA, with one of the goals being to synthetically create an entire human genome.
Plans for the project have already set off an ethical debate, because the ability to chemically fabricate the complete set of human chromosomes could theoretically allow the creation of babies without biological parents.
