The Human Genome Project was coordinated by US Department of Energy and the US National Institute of Health. The main goals of this project are:
- Identify all the approximately 20000 – 25000 genes in the human DNA
- Determine the sequence of the 3 billion chemical base pairs that make up the DNA
- Store this information in databases
- Improve tools for data analysis
- Transfer related technologies to the private sector
- Address the ethical, legal, and social issues that may arise from the project.
Earlier, nobody had an idea of how to sequence human DNA. But with the advent of different new computational methods, it became very easy to sequence DNA.
Among all the genes only 1.5% of the genetic code is for proteins and the rest of the genetic code is for nucleic acids, introns, and regulatory sequences. Through the human genome project, scientists got to know the amino acid sequence of every human protein and they are able to develop drugs according to their requirements. They can also check how a 3D structure of a protein gets folded and how a protein works.
A special consortium called the structural genomics consortium (SGC) is set to determine the structure of a number of different proteins. Ankylosing spondilytis is a very common disease which causes back pain for which there was no known treatment before. But with the completion of human genome project, there is now hope for the treatment of this disease. This is because of the understanding of the human DNA and comparing the genes, the scientists are able to identify the diseased gene/s and with research on what is wrong with the gene. They research how to isolate the gene or find corrective drugs which can restore the gene to normal state. Some of the genes mutate, that is, bind themselves together, giving rise to another gene, which may cause disease/s.
With this research, sequencing of human DNA helps a lot in the treatment of different kinds of diseases. Understanding of the human DNA sequence is very important to improve the diagnosis of diseases and developing new therapies. Scientists observed many damaged genes in a number of diseases and much effort is done in preventing these from damage. Many diseases cause mutation in the sequence and affect the phenotype of the organisms.
Many different techniques are employed for sequencing the human DNA. Shot gun sequencing is one of the widely used techniques for sequencing the DNA. Hierarchical sequencing is another method of sequencing DNA. This method is an older method and is used in the beginning part of the Human Genome Project. With the development of new and better computational approaches, shot gun sequencing has been preferred to other sequencing tools. TIGR assembly software is one of the main assembly software for assembling the sequence of DNA.
Humans are prone to many diseases. Diagnosing these diseases is one of the main aims of the Human Genome Project. Diseases normally may affect the genotype or the phenotype of an organism. By DNA sequencing, one can easily develop good and effective drugs against the disease. Thus human DNA and genomics has brought a ray of hope for the prevention and protection against some of the diseases that afflict mankind.