Genome Project and Bioinformatics

What is the Human Genome Project?

The complex international operation that led to the mapping of the human genome sequence is the Human Genome Project. The first draft of the human genome has already been published. It was published by the project's scientists in different centers in the world. The draft can be found in its entirety on computer databases, and contains almost all the three billion (3×109) "letters", the DNA bases, composing the sequence of the human genome. This sequence is present in almost every cell in the human body, and contains information on how each cell in our body will grow, develop, function, and even die.

What are the goals of the Genome Project?

The initial goal of the Human Genome Project is to create a long list of the human DNA bases that compose the genome, in the order they appear on the chromosomes. The number of bases in DNA exceeds 3 billion base pairs. Imagine that if you tried to write down the whole sequence in Word, using the same font as this passage, the sequence will fill hundreds of thousands of pages. Such a quantity of information can be organized only using computers. During the completion of the first goal, scientists applied themselves to the following goal: systematically identifying all human genes in the list of bases, creating a map of genes on that list. Such a map will lead to the cataloging of human genes. Today, there is a partial map of known genes, which is being updated as more genes are identified. This map can be compared to similar maps that have been developed for other organisms (yeast, flies, worms, mice, etc).

What is bioinformatics?

Bioinformatics is a field of scientific research that combines biology, computer science and information technology. One of the fields in which bioinformaticians engage is the development of computer tools for organization, mangement, analysis and interpretation of information related to biological studies, including those dealing with the genome. Man's genomic DNA sequence is enormous, meaning that the organization of the resulting information in computer databases is essential for its interpretation. The information is organized in such a manner that it can be read rapidly and efficiently, and it is stored in accessible databases on the Internet. The field of bioinformatics makes use of many different programs that organize information by DNA sequence, genes and proteins translated according to the information on the genes. This field is developing and is constantly updated with the accumulation of information and new discoveries, which give bioinformaticians new challenges.

What is the importance of the Genome Project?

Geneticists have been identifying and isolating human genes for many years, particularly genes related to genetic disorders. The information acquired in the Human Genome Project can give a boost to the process of identifying all human genes. Identification of the genes and their functions can allow for the diagnosis and treatment of genetic disorders. Furthermore, this identification can bring about new biological insights that will be particularly essential for understanding complex processes, such as aging and the development of cancer and heart disease, which are not the result of the activity of a single gene, but rather of the activity of many genes. The process of identifying the genes participating in the development of disease requires high skill and calls for close cooperation among researchers in the field of medicine, geneticists, and bioinformaticians.