Life as we know it, is specified by the genomes (the entire genetic component of the living organism) of the large variety of organisms with which we share the planet.
Every organism possesses a genome that contains biological information needed to construct and maintain a living for that specific organism.
The human DNA consists of 3.3 billion nucleotide base pairs divided into chromosomes. These base pairs form sequences called genes. There are approximately 20000 to 25000 genes in the human body.
The human genome project (HGP) was a multibillion dollar global research project with the goal of complete mapping and understanding of all the genes of the human body. It was the world’s largest collaboration biological project.
The human genome project was started in the year 1990 with the objective of determining the DNA sequence of the entire euchromatic human genome and was completed in the year 2003.
The project was formally founded by the US department of energy and the national institutes of health, and was expected to take 15 years. In addition to the United States, the international consortium comprised geneticists in the United Kingdom, France, Australia, china and myriad other spontaneous relationships.
Pioneers in the Human Genome Project:
- Robert Sinsheimer proposed the idea of sequencing of the human genome in the year 1985.
- Charles DeLisi and David Smith proposed the budget for the human genome project.
- James Watson was the first project director of the human genome project and was later succeeded by Francis Collins in the year 1993 as the overall project head and the director of the NIH (later known as national human genome research institute or NHGRI) and was in power until completion of the HGP in 2003.
Technical aspects in the Human Genome Project:
The process for determining the human genome involves two things:
- Genome mapping or characterising the chromosomes. This is called the genetic map. Genome mapping uses genetic markers for the creation of genetic map.
- Genetic markers: any inherited physical or molecular characteristics that are different among individuals of a population.
The next step is DNA sequencing, or determining the order of DNA bases on a chromosome. These are physical maps.
To sequence the DNA, it must first be amplified, or increased in quantity. Two types of DNA amplification techniques are cloning and polymerase chain reactions(PCRs).
Once the DNA has been amplified the sequencing techniques used in the human genome project are:
- Shotgun sequencing method
- Sanger sequencing method
Breakthroughs of the Human Genome Project:
Publicly available scientific data:
The project pioneered the practice of making scientific data available to the public free of charge. This open access to data helps researchers make discoveries far more quickly.
Discovering our origins:
Shedding light on human origins and migrations that facilitate personal discovery of your ancestry is another key accomplishment of the HGP. Scientists have compared ancient and modern DNA to understand changes in the genome over the course of time.
Finding the causes of the diseases:
The Human Genome Project has supercharged efforts to discover the causes of various diseases. This leads to successful treatments for a wide range of medical conditions. As a result, more than 1,800 disease genes have been discovered. With the lower cost of genetic research, studies can now be conducted to identify the causes of rare diseases.
More personalised drug treatment:
The field of pharmacogenomics has greatly benefited from the HGP. This field examines how an individual’s genetic variation affects their response to drugs. The data is being used to determine if patients with certain diseases will respond to specific drugs, and in some cases, the correct dosage. In the future, thanks to genetic research, it’s expected that there will be even more targeted prevention, preemptive intervention, and treatment.
Future possibilities with gene therapy and genetic engineering:
In the past few years, interest in human genetic modification and gene editing technology such as CRISPR (cultured regularly interspaced short palindromic repeats) has skyrocketed. One day, with genetic modification, it may be possible to simply change a person’s genes to prevent or cure a disease.
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