Information Technology Reference
In-Depth Information
each from (
i
) to (
viii
) with respect to numerous disease conditions. The overall belief is that
HUPO will be much bigger than HUGO with more diversity of niches therein
(http://www.hupo.org/).
Thanks to the knowledge of the human genome, in years that are coming medics
will be able to predict the diseases each of us is predisposed to. Mankind is on the edge of a
new preventive and individual molecular medicine that will be based on
pharmacogenomics [8], the use of drugs "tailored" according to the specific genes of an
individual. Three years after the birth of the cloned sheep Dolly in Scotland, the Great
Britain was the first country in the world where scientists were able to clone human
embryos for therapeutic needs. It is believed that the Stem cells of human embryos are
hiding keys for curing numerous diseases. The Stem cells will allow the development of
tissues that will help in curing Alzheimer and Parkinson diseases, heart diseases, multiple
sclerosis, muscle dystrophy, diabetes and many others [9]. With the official publication of
the first draft of the human genome and the ensuring rapid progress, a number of important
doubts are left open. Some of them are technical, for example, it is one thing knowing the
gene but it is another to understand the function of its product. Others are legal, like how
much should be known about a gene before a patent can guard it. The third group of doubts
are social and ethical. Would we really want to have a diagnosis for an incurable disease 20
to 30 years before its first symptoms appear?
An example of social and ethical doubts comes from the major breakthrough in the
fight against malaria that was announced in October 2002 by an international collaboration
of scientists from the UK and America. A six-year project to sequence the genome of the
Plasmodium falciparum
parasite, which causes the most deadly form of malaria, was
completed. In a separate project, an international consortium of researchers sequenced the
genome of the
Anopheles gambiae
mosquito, which is a major vector in the transmission of
the parasite to humans. The genomes were published in Nature (
P. falciparum
; [10]) and
Science (
A. gambiae
; [11]). Malaria infects at least 500 million people per year and at least
1 million per year die of it. The genome sequences should allow new strategies for
combating malaria. As passage through humans is an obligate part of the life cycle of
P.
falciparum
, this could well lead to eradication of the species. Many people might view this
as a desirable goal, but, as the discussion about destruction of small pox stocks shows, there
are potential ethical problems even in this case. Another target is the vector and an
approach has been proposed that could drive a mosquito species to extinction [12]. This
approach would be to construct an element with a homing endonuclease (HEG) that would
be inserted in an essential gene for reproduction. The gene would be chosen so that
heterozygotes would not suffer from any disadvantages, which would favour the rapid
spread of the HEG element. However, homozygotes would be sterile. Theoretical
calculations suggest that the release of enough mosquitoes carrying the HEG element could
drive a population to extinction within a short time (e.g. ca. 1 year). Although this would
appear attractive from the point of view of reducing malaria infections, mosquitoes play an
important role in ecology participating in pollen distribution and being a part of the food
chain.
Sequencing of the human genome is important for the understanding of the
molecular bases of diseases, as well as for the discovery of new biological targets needed
for the development of novel drugs. By looking at proteins of model organisms that are
similar to a human protein - deduced from newly sequenced human gene - a lot could be
learned about its secondary, tertiary and quarterly structure. This knowledge can then be
used to search for chemical compounds that will bind the protein and inactivate it. An early
example of the application of such studies in drug discovery comes from a proteomics
study, in which protein expression in osteoclasts taken from people with bone tumours was
compared with that in osteoclasts taken from healthy people. This revealed that one
