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The Human Genome Project is biology's first large science project and is planned
with an outlay of three billion dollars and an international collaboration
involving 18 countries and 250 laboratories. The project is supported by the
Department of Energy, US national laboratories at Los Alamos & Lawrence, the
National Institute of Health, Universities of Texas, Washington & Berkley . The
Welcome Trust and The Sanger Trust from UK, besides scientists from France,
Germany, Japan, Italy and a dozen other countries.
For the past 15 years, they have been involved in determining the precise order
of the six billion nucleotides of the human genome. India had a small presence
in the programme with the scientists of the Sankara Netralaya at Chennai,
mapping seven eye-related genes.
HISTORICAL TRACK OF THE PROJECT:
- The first serious discussion about sequencing the entire human genome occurred
at a workshop at the University of California at Santa Cruz in 1985.
- A second workshop, organized by the US Dept. Of Energy (DOE), held in March
1986, discussed the feasibility of an organized programme.
- In 1988, the US Congress officially launched the Human Genome Project by
appropriating funds to both the Dept. of Energy and the National Institute of
Health (NIH).
- Later in October 1988, NIH and DOE drafted a memorandum of understanding for
inter-agency coordination. The agencies then created both separate & joint
committee and working groups to administer the project.
- NIM established the office of Human Genome Research in 1988 to plan & supervise
the genome activities & subsequently this office evolved into the National Human
Genome Research Institute.
- James Watson, the first Director of NIH, gave energetic leadership to the
project in the formative years.
Since 15 years the members of the project are striving to create a map of the
entire set of genes in the human cell by decoding the three billion units of the
human DNA.
- On April 14, 2003 , the human genome consortium comprising of all member
organizations announced that it had completely decoded the set of genetic
instructions. Two years earlier than expected, the scientists announced that
their knowledge about the human genome in now nearly complete although it might
have few errors. The project is now officially at end.
MEANING OF HUMAN GENOME:
Human genome refers to the entire genetic make-up of humans. The genes that give
rise to specific human characteristics and the ones that regulate the
functioning of other genes are collectively called the 'human genome'. Roughly a
lakh genes are contained in about 3 billion base pairs present in every human
cell.
Human body is made up of trillions of cells. The nucleus of every cell in the
body contains chromosomes. Chromosomes are relatively long, thin, threadlike &
contain the DNA, RNA & protein. In man, there are 23 pairs of chromosomes in
every cell.
DNA (Deoxyribonucleic Acid) which are found in the chromosomes, are the basic
carrier of hereditary material in the form of genes. DNA is a polymer and
consists of two strands (chains) of nuclear acid, which are usually intertwined.
The structure of DNA was discovered by Crick and Watson in 1953.
Gene is a part of chromosome, with the ability to transmit hereditary
characteristics from one generation to another. Since chromosomes occur in
pairs, genes also occur in pairs. The hereditary information is carried by the
sequence of bases in a gene. But a single gene has thousands of bases & some
have millions. So each gene is like a single word with thousands or millions of
letters. This proves that how difficult the process of genome mapping is.
BENEFITS OF GENOME PROJECTS:
The genome is called the "Instruction Book of Life". Its full interpretation
will provide the ultimate answers to the questions of human origin & how we
function as healthy human beings. The major advantages of genome project are as
follows :
- Medical Prospects: Genome sequencing allows rapid & accurate diagnosis for
individuals. Already the genes for many diseases like Cancer, Alzheimer disease
& polycystic kidney disease have been identified Genome mapping has led to a
shift towards preventive medicine rather than curative. Thus if a person knows
from his genetic profile that he is at risk for heart disease, then he may have
a modified diet or frequently visit doctor to help prevent heart disease. An
expectant mother may have genetic testing done to determine if her child has a
mutation that causes a genetic disorder, & thereby take preventive measures.
- Application Of Gene Therapy: In future, it would be possible to correct medical
disorders by going straight to the source, i.e. the genes. If a disorder is
caused by faulty or mutated gene, the doctor may be able to insert new DNA into
the cells. This new DNA would replace the action of the mutation and restore the
function that was damaged by the mutation.
- Scientific Prospects: The genome mapping will provide new clues on evolution of
Home Sapiens, the extent of human diversity and what makes a person different
from another. Also the genome data will aid scientists in building evolutionary
family tree of species from different historical perspectives of Bio-archeology,
Anthropology & human migration.
- Environmental Applications: Taking into account potential advantages of Human
Genome Project, similar projects were started to sequence the genomes of various
microbes. Analysis of microbial genomes will help in identifying their
capabilities to address the environmental problems, their use in energy
production as bio-fuels, as an answer to the limited natural resources.
- Use In Forensic Science: Genome sequencing would aid in the identification of
criminals & victims of some tragedy. Other examples of DNA uses for forensic
identification include pedigree analysis, identification of accurate matches for
organ transplantation, establishing relationship with family members, tracing
the hierarchical order of a family, DNA fingerprinting etc.
- Agricultural Prospects: The Human Genome Project has initiated a parallel study
of genomes of plants and animals. This has aided plant & livestock breeding.
Thus we now have genetically modified plants which are insect & disease
resistant & also genetically modified farm animals which are healthier & more
productive.
CHALLANGES IN FUTURE:
The sequencing of the genome is a milestone in our quest to explore scientific
possibilities. But if this technology is misused, then it could lead to a
situation of "negative eugenics". Eugenics is "the use of genetic knowledge to
improve the human race". This could lead to an uncontrollable desire to make use
of genetic treatment for improving the physical appearance, traits etc. of
persons. Other challenges such as environmental impact, cost effectiveness,
potential loss of bio-diversity, and common man's access to technology are also
debatable in the genome mapping issue.
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