Human Genome Project: Goals, Methods, Significance & Applications

The Human Genome Project was an international research effort designed to map out the DNA sequence of an entire human genome. The project set a goal to sequence the human genome, which, if successful, could resolve the mysteries behind several genetic disorders in humans and provide cures for them. The Human Genome Project is part of Unit 7 Genetics and Evolution.

• This project was coordinated by the US Department of Energy and the US National Institute of Health. 
• The success of the project was the reason for the growth in the field of Bioinformatics.
• The idea was planned in 1984, by the US government, and the project was formally launched in 1990.

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What is the Human Genome Project?

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The Human Genome Project (HGP) is an integrated project with the goal of deciphering genetic code of human. The project was successful in the sequencing of the Human Genome; it could solve the mystery of many disorders in humans and gave the understanding to cope with them.

• A human genome has 3.3 billion base pairs and the Human Genome Project aimed to identify approximately 20,000-25,000 genes in Human DNA.
• Eventually, the Human Genome Project gave the understanding that 99.9 percent of all nucleotide bases are exactly the same in all people.
• It was then identified that there are 1.4 million locations with single-base DNA differences, known as SNPs (Single Nucleotide polymorphism) which makes difference between humans.

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Goals of Human Genome Project

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There were four major goals of HGP project which are mentioned below: 

1. First, to identify all the approximately 20,000-25,000 genes that make up the human DNA.
2. Map out the genome sequences of the 3 billion chemical base pairs that comprise the human DNA.
3. Ensure the storage of the derived information in genome sequence databases. 
4. Optimize the tools required for the data analysis process.
5. Handle the ethical, legal, and social issues (ELSI) that may arise during the project. 

The Human Genome Mapping Team

The Human Genome Project provided an opportunity for scientists all over the world to come together and contribute to an event that would change the course of history. The HGP was globally funded and included the participation of scientists across six countries. Initially the Department of Energy and US National Institutes of Health were the labs involved. Then contributions from the UK based Medical Research Council and Wellcome Trust allowed the project to run on a large scale. 

The team ultimately came to be known as the International Human Genome Sequencing Consortium. Scientists from 20 institutes across six countries were involved in it. The countries involved included Japan, China, France, Germany, the United Kingdom and the United States. 

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Methods of Mapping the Human Genome

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In the Human Genome Project, two different and significant methods were used. In the first method the genes were differentiated in a sequence were ones being part of the genome and the other that expressed RNAs. The other method sequences annotations; the entire genome was first sequenced and the functional tags were assigned later.

The experiment took forward by breaking the genome into 150,000 smaller pieces, these pairs were then ligated into a type of cloning vector known as “Bacterial Artificial chromosomes” or BACs.

• BAC vectors are then inserted into bacteria where they are copied by a machinery that replicates the bacterial DNA.
• 150,000 base pairs together create chromosomes, known as the Hierarchical Shotgun approach.
• It is called so because the genome is broken into larger chunks and then mapped to chromosomes before they are selected for sequencing.

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Significance of Human Genome Project

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The Human Genome Project will entirely reshape the approach to all biomedical research as well as therapeutic and preventive health care. Students interested in a deeper analysis of the Human Genome Project can visit the official website created by the National Institute of Health. 

• The project helps in understanding the diagnosis, prevention, and treatment for disorders and ailments that affect human beings. 
• It was found that the entire genome is made up of 3.3 billion base pairs, where proteins are coded by less than 2 percent of the genome.
• Sequencing of entire human genome helps in understanding the genetic diseases and their causes. 

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Applications of Human Genome Project

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The development in fields like bioinformatics and biostatistics will allow for better pattern detection and analysis of genetic disorders. Few important applications of the HGP are listed below in detail: 

• Gene Identification: Gene editing technologies utilized in treatment of diseases like cancer can be developed from the Human Genome Project easily. 
• Understanding Disorders: With the help of genetic mapping, both genetic and non-genetic disorders can detected in the early stages.  
• Gene Therapy: A comparative analysis is performed between the HGP sequence DNA sequences of cancer cells to identify mutated genes and further develop drugs.
• DNA Fingerprinting: DNA fingerprinting with HGP makes it possible to scan up to 10 DNA regions and thus generate a DNA profile of an individual.

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Things to Remember

• The Human Genome Project is a basis of mapping entire DNA sequences of an organism. 
• The project was officially launched in the year 1990 and completed in 2003. 
• It is called the big picture or mega project because the project took 13 years to sequence every nucleotide sequence present in the human genome.
• The application of HGP is widely seen in the fields of molecular science, forensic science, diagnostics etc.
• HGP acts a blueprint in understanding genetic and non genetic disorders.