Oct 1, 2013 (4 years and 9 months ago)




Dr.T.V.Rao, MD

Bioinformatics is an emerging science which brings together the fields of Microbiology,
Molecular Biology, Bio Technology and Genetics under the fold of computers and Software
Advances in Computer Technology. Thanks to James Watson

Crick in basic underst
anding of
the Bacterial DNA (genome). The coding of Chromosomes through the Super Computers;
Databases and Software Technology perfecting the code of life, now Bioinformatics has become
a big enterprise. Research reports, from all round the world (300 Labo
ratories) presented recently
during a major genome conference at Cold spring harbor laboratory showed clearly that an
exciting technology is born. We doctors in the past looking the problems of life and disease
through clinical medicine, few laboratory tes
ts and other technical advances. The Bioinformatics
is changing the entire concept, in future we may be compelled to view life and disease through
the Chemistry of Genes. The facts about the human genome project were made public on the
Internet by US depar
tment of energy and National Institute of Health, making the approach
easier to any scientist or Doctor to learn the genomic science to utmost detail.

1. Basic findings of Genome Project: a) Basis of life is equal between two individuals upto
99.9% extent
, secret of difference lies in only 0.1%, contributing to our individuality. b) There
are approximately 30,000 Genes. c) Genetic Mutations are common in males, so men are agents
of change. d) so Genetic diseases are common in men.

2. Computer Speaks (Bio
information): With feeding of complicated information to a computer,
it speaks that life is a pack of information with a clear message that book of the life written in the
complex DNA consisting of four letters. A.T.G.C.

A = Adenine; T =Thymine; G = Guanin
e; C = Cytosine.

At present we have > 85% of information on 23 pairs of Human Chromosomes. In future science
expects that Physician can solve many mysteries of disease just looking into a computer and the
greatest advantage lies in detection of most of the

Genetic disorders. In future many diagnostic
tests may be done by Bio informed computers, the chip locating abnormal base pairs at different
gene locations. Now in many Nations scientific organizations of repute are on a path to
Bioinformatics with aim to

make the recent science available to many.

3. Bioinformatics and Gene Therapy: Gene therapy suffered with many problems in the past will
have a greater revival with better understanding of human genome. Many gene therapy trails will
become virtual realiti

4. Bioinformatics and Proteomics: The knowledge of information about the Genes and Science
of Genomics lead to science of proteomics

catalogue and analyze every protein in human
system. The science of proteomics (Structural Genomics) will revolution
ize the understanding of
Hormones, Immunoglobulin’s targeting infections and Enzymes that build or break down energy
reserves. We are aware now, that there are too, many proteins which guide our life (50,000 to
about 2 millions). But few Proteins play the
real orchestra, modifying different actions. Already
many Bio Technology firms have started proteomics programme, if the events succeed to desired
expectations there will be better quality of life serving to minute details.

5. Human Genome Project


of Future: At present we use certain drugs with a broad
understanding to target only 500 proteins in the body, out of the 30,000 proteins already known
to us. Because of the better understanding of Genome, Scientists have a good understanding on
what happ
ens if drug acting down to molecular level. Till now many drugs are experimented on
trial and error basis mainly intervening at the level of signs and symptoms, and few at cellular

With advances in Genomic Medicine there will be more rational app
roach in drug discovery and
clinical application. In future it is possible to target the diseases like Diabetes and Cancer before
the onset of physical disease (phenotypic expression). The scientific visions include interfering
with the sick cell, sparing
the healthy cells, making the therapy least toxic and harmful. The
discovery in this direction lead to discovery of Monoclonal antibodies, choosing the particular
receptor on the cancer cell responsible for propagation of disease. Already 12 such drugs are

available in developed countries prominent being Herceptin, if blocks the HE
2/neu receptor,
which is prominent on some breast cancer cells. Tepper’s group is on the way to find a
Monoclonal which can block the common receptor for cancers like breast, pro
state, lung and
colon to create a super drug for many cancers. With better understanding on Bioinformatics

Drug discoveries will be target oriented with least toxic effects.

6. Genomic Based Drug Discovery: Alfred Gilman, a pharmacologist and
winner of 1994 noble
prize for his work on Cellular Signaling Mechanism, is now working with goal to trace the map
of chemical pathways in the cells and use the knowledge to create virtual cell with all the
pathways in a computer. Now the drug companies ar
e using the Bioinformatics algorithms to
predict the functions of proteins encoded by newly discovered genes. Many drugs discovers are
moving to fast growing new area of Computer Science to fuel their endless quest for newer drugs
and better targets.

7. Ma
jor Diseases on the List of Pharmaceutical Industry


following diseases are being targeted by many drug firms with Bioinformatics include:
AIDS, Mental Illnesses, Auto Immune Disease, Obesity,

disease, Heart Disease and
Parkinson’s disease


From Experiments to Reality

The sequence of events from Discovery of Noble Laureate Joshua Lederberg (1958) on exchange
of DNA within such chromosome pairs leads to process of homology recombination expressing
in Genetic variation in the population. The

present events of discovery by Mario Capecchi and
Oliver Smithies applied the homology recombination in mammalian cell. The homologues
recombination could take place between introduced DNA the cell Chromosome may even repair
with the help of induced genes

and awarded the Nobel Prize in 2007. The present study by them
has targeted role of Genes involved in Mammalian organ development. Several human inborn

be targeted in events of malformation. If the future experiments are successful mouse

will be used for gene targeting

art of Medicine will be enriched with biology as
source of future developments in Medicine.

Changing Role of Biology on Medicine: We understand more of Genes and inheretence.The
quest to discover disease linked genes re

high. Now it is understood the 3 million
DNA bases in the Human genome have identified that about only one tenth, of one percent
(Million) differ from one person to another. Variation in these particular letters called SNIPS or
SNP’s, for si
ngle nucleotide polymorphisms have replaced genes as unit of heredity.

Role of Bioinformatics and Bio
Medicine on the Medical Profession: In the near future, every
standard text book on Medicine, articles, journals published from reputed medical instituti
emphasize the origin of disease on Genetic basis locating, few base pairs of Genes responsible
for any complicated disease. The treatment approaches will be on targets of pathological process
rather than vague remedies. We teachers in medicine should c
oncentrate in understanding the
role of Genes in disease and spread the message to our students. Let us learn to understand many
diseases have a genetic basis and unlock the problem with a right key. Let there be more
workshops, CME’s & Seminars on orienta
tion of Bioinformatics and Biomedicine to our
Doctors, so that we do not remain a
s Apes in front

learned computer.


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