Goals of the Human Genome Project

Until the beginning of 1980s, a detailed map of the human genome was considered to be an unattainable objective. However, in 1988 Human Genome Project was established as a loose but organised collaboration between geneticists in all parts of the world aiming at preparation of a genetic map of the human genome. Its office was established by the National Institute of Health, Bethesda, Maryland with James Watson as its first director. The Human Genome Project started on October 1, 1990. The funding came from National Institute of Health (NIH) and US Department of Energy (DOE). During early years, the Wellcome Trust (UK) became a major partner. Japan, France, Germany, China and other countries also became additional contributors to this project.

When initiated, the Human Genome Project was a 13-year project. But due to advances in technology, availability of powerful high speed computational devices for data processing, data storing and retrieval facilities, scientists announced the first working draft of the entire human genome in June, 2000 and first detailed analysis appeared in the February 2001 issue of the journal Nature and Science. The draft described about 85% of the total nucleotide sequences and about 90% of the entire coding region. The project was completed in April 2003, two years ahead of the schedule (This year was the 50th anniversary of Watson and Crick’s publication of DNA structure).

Goals of Human Genome Project 

1. Sequencing: To sequence the entire genome that includes above 3 billion base pairs.
2. Storage: To store this information in databases, easily accessible to scientists all over the world.
3. Identification: To identify 20,000-25,000 genes in human DNA.
4. Physical Maps of Genome: To obtain a physical map of the human genome by cloning DNA into yeast artificial chromosomes (YACs), bacterial artificial chromosomes (BACs) and cosmids.
5. Genetic Markers: To identify thousands of genetic markers and map them in the genome.
6. Technology: To develop technological advances in genetic methodologies, such as gene cloning sequence contigs and sequencing complete genomes.
7. To transfer related technologies to other sectors, such as industries.

& ELS Issues: To address the ethical, legal and social implications of the results obtained from the project.

Applications of Human Genome Project and Future Challenges

The meaningful use of the knowledge of DNA base sequences and knowing the complete human genome require the expertise and creativity of biologists, chemists, engineers, doctors and computational scientists. These informations can be used for:

1. Describing a human being genetically 
2. Diagnosis and treatment of diseases by

(a) improving diagnosis of diseases

(b) detecting genetic predisposition to disease (c) creating drugs based on molecular information

(d) designing custom drugs specific to every individual based on his genetic profile (e) using gene therapy and control systems for drug delivery

3. Determining genetic heritage of individuals or groups
4. DNA fingerprinting can help in identifying potential suspects whose DNA may match with the evidence (hair, blood drops, semen drops) at the crime scene and in exonerating persons wrongly accused of crimes.
5. Establishing paternity and other family relationships
6. Matching organs from donors with recipients in organ transplant programmes
7. Establishing evolutionary relationship with other animal groups

Though the nucleotide sequencing of human genome is completed, we still need to know

About:

1. Exact number, location, structure and functioning of all human genes.
2. Genes involved in complex traits
3. Multigene diseases and their inheritance
4. Amount, distribution, information, content and functions of noncoding DNA
5. Developmental genetics, genomics and proteomes (total protein content)
6. Correlation of SNPS (single nucleotide polymorphism) and health and disease.

Conclusion

Other breakthroughs were made as a result of the Human Genome Project, although they are not expected to be realised until much later. An advanced draught of the mouse genome and an early draught of the rat genome were among them. Medical researchers didn’t waste any time in putting the Human Genome Project’s data to use. Fewer than 100 human disease genes had been discovered when the research began in 1990. The total number of disease genes found had climbed to almost 1,400 by the project’s end in 2003. The Human Genome Project focused on an individual’s DNA sequence. The following stage was to compare DNA sequences from various populations. 

The HapMap is a database of human genetic variation. The HapMap, which was completed in 2005, uses single nucleotide polymorphisms (SNPs) to discover huge blocks of DNA sequence known as haplotypes that are inherited together. Researchers examine haplotypes in persons with and without diseases to make sense of the data. The haplotypes shared by persons with the disease are then analysed in depth to hunt for genes that are linked to the condition. Scientists have already used the data to find a gene linked to age-related macular degeneration, a condition that causes blindness in the elderly. The HapMap is expected to play a significant role in identifying many more disease genes in the future.