Seminar tools of computation and analysis toSeminar tools of computation and analysis to

report on Bioinformatics in Human Health

of Bioinformatics in molecular Medicine

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Bioinformatics is the
application of tools of computation and analysis to the capture and
interpretation of biological data .Bioinformatics is essential for management
of data in modern biology and medicine .The bioinformatics toolbox includes
computer software programs such as BLAST and Ensemble, which depend on the
availability of the internet .Analysis of genome sequence data, particularly the
analysis of the human genome project, is one of the main achievements of
bioinformatics to date .Prospects in the field of bioinformatics include its
future contribution to functional understanding of the human genome, leading to
enhanced discovery of drug targets and individualized therapy . Bioinformatics
is the field of endeavor that relates to the collection, organization and
analysis of large amounts of biological data using networks of computers and
databases (usually with reference to the genome project and DNA sequence
information) .Bioinformatics studies two important aspect of modern biology.

One is the flow of
genetic information from DNA of individual organism up to the characteristics
of a population of such organisms (with an eventual passage of information back
to the genetic pool, as encoded within DNA). Second is the flow of experimental
information from observed biological phenomena to models that explain them and
then to new experiments in order to test these models. The science of Bioinformatics
has their own base in the number of molecular activities like organization of
DNA sequence and protein three-dimensional structural data collections in the
1960’s and 1970’s. It has become a major academic and industrial enterprise
with the introduction of biological experiments that rapidly produce huge
amounts of data like the multiple genome sequencing projects, the large scale
analysis of gene expression, and the large scale analysis of protein-protein
interactions. Basic biological science always play a key role in the clinical
medicine (and clinical medical information systems), and is creating a new
generation of epidemiologic, diagnostic, prognostic, and treatment modalities.
Bioinformatics efforts that appear to be wholly geared towards basic science
are likely to become relevant to clinical informatics in the coming decade. For
example, DNA sequence information and sequence annotations will appear in the
medical chart with increasing frequency. The algorithms developed for research
in bioinformatics will soon become the part of clinical as well as basic
information systems.





Genomics will make
three major contributions to drug therapy. In the first place, new genes, which
code for secreted proteins, will continue to be identified. Second, genomic
sciences are about to identify the most suitable targets for drug intervention.
Although current drug therapy rests on approximately 500 such targets, the
emerging number is estimated to be in the range of 5,000 to 10,000 target
molecules. Third, we are learning why patients respond differently to drugs.
The genetic patterns that define these responses are being identified and used
to target drugs more effectively during their development. This approach will
also allow for individualized drug therapy. The existence of these genes does,
of course, not detract from the importance of environmental influences. These
1000 disease genes might not always guide the synthesis of proteins that are
good drug targets. However, it appears reasonable to assume that each of these
disease genes, or rather proteins that are specified by the disease genes
connects with at least 5-10 proteins that represent feasible levels for drug
intervention. On the basis of these calculations, one can assume that there are
5000-10,000 gene products that can be used as targets for drug interventions.
Even if the lower number would turn out to be the proper approximation, the
utilization of information stemming from the Human Genome Project and from
other related programs would allow for a tenfold increase in the number of drug
targets, compared with the current situation. Such an expansion of the
operational possibilities of drug therapy would lead to more specific therapies
and into therapeutic methods that are much closer to the molecular causes of
diseases than current therapies .There are few reason due to which bio-informatics
become permanent part of genomics. These are – 1.Due to need of improved
software that align two genomic sequences and has a authentic statistical basis
2.A strong system for the prediction about the gene , that can combine the
genomic sequence compression , intrinsic sequence properties and result from
database search of protein sequence and ESTs 3.Automated and reliable software
for aligning three or more sequence alignments 4.Better methods for displaying
and browsing genomic sequence alignments 5.Good quality of data setting and
protocol for evaluation of the accuracy and performance of the genomic
alignment software.













Molecular medicine is a broad
field, where physical, chemical, biological, bioinformatics and
medical techniques are used to describe molecular structures and
mechanisms, identify fundamental molecular and genetic errors of disease, and
to develop molecular interventions to correct them. The concept of the
distribution of medicine to each individual cell just as oxygen would be an
example of the practice of molecular medicine (via lung chemical reaction
manipulation an idea coined by Saniab Jacob). The molecular medicine perspective
emphasizes cellular and molecular phenomena and interventions rather than the
previous conceptual and observational focus on patients and their organs.

November 1949, with the seminal paper, “Sickle Cell Anemia, a Molecular
Disease”, in Science magazine, Lanus
Pauling, Harvey Itano and their collaborators laid the groundwork for
establishing the field of molecular medicine. In 1956, Roger J.
Williams wrote Biochemical
Individuality, a prescient book about genetics, prevention and
treatment of disease on a molecular basis, and nutrition which is now variously
referred to as individualized medicine and orthomolecular
medicine. Another paper in Science by
Pauling in 1968,7 introduced
and defined this view of molecular medicine that focuses on natural and
nutritional substances used for treatment and prevention.

research and progress was slow until the 1970s’ “biological
revolution” that introduced many new techniques and commercial

researchers separate molecular surgery as a compartment of molecular

medicine is a new scientific discipline in European universities.
Combining contemporary medical studies with the field of biochemistry, it
offers a bridge between the two subjects. At present only a handful of
universities offer the course to undergraduates. With a degree in this
discipline the graduate is able to pursue a career in medical sciences,
scientific research, laboratory work and postgraduate medical degrees.



Pharmacogenomics is
improving the drug discovery process by accelerating target discovery and by
helping to select the most promising drug candidates. High Throughput Screening
(HTS) is now a day’s proved to be an excellent bioinformatics tool in during
discovery. A-Switch from descriptive to causal Diagnostics Define Genes and
Gene Products which are causally responsible for the pathogenic process
Determine Gene Products which are suited as Drug Targets B- Two Data Sets have
to be known Gene Sequences Profiles of Gene Product Expression The role of
single nucleotide polymorphism in understanding of these diseases is that SNPs
can cause a diseases like Sickle cell anemia and further they can be used a s a
marker for a diseases .these can be used to denote the prevalence of a diseases
. SNP is more frequently found in diseased humans than in non affected
individual’s .Likewise Apo E is a SNPs marker for Alzheimer’s Diseases.


and Diseases

 Following are the well known diseases –

 Migraine headaches


 Sickle cell anemia

 Type-II diabetes


 Phenyl ketonuria

muscular dysplasia


disorder associated with Apo E2.




Cytochrome P450
1B1 (CYP1B1)

Cytochrome P450
17 (17-Alpha-Hydroxylase)

Peroxides (GPX1)

 Glutathione S-transferees P1 (GSTP1)

guanine-DNA Methyl transferees (MGMT, AGT)


Tumor Necrosis
Factor-alpha (TNF-a)

Pigment sum, Complementation Group D (XPD)

 Xeroderma Pigment sum, Complementation Group F

X-ray Repair,
Complementing Defective, in Chinese Hamster, 1 –XRC


Personalized medicine, also
termed precision medicine, is a medical procedure that separates
patients into different groups with medical decisions, practices, interventions
and/or products being tailored to the individual patient based on their
predicted response or risk of disease. The terms personalized
medicine; precision medicine, stratified
medicine and P4 medicine are used interchangeably to describe this
concept though some authors and organizations use these expressions
separately to indicate particular nuances.

While the
tailoring of treatment to patients dates back at least to the time
of Hippocrates, the term has risen in usage in recent years given the
growth of new diagnostic and informatics approaches that provide understanding
of the molecular basis of disease, particularly genomics. This provides a
clear evidence base on which to stratify (group) related patients.



Gene therapy is the therapeutic
delivery of nucleic acid into a patient’s cells as
a drug to treat disease. The first attempt at modifying
human DNA was performed in 1980 by Martin Cline, but the first
successful nuclear gene transfer in humans, approved by the National
Institutes of Health, was performed in May 1989. The first therapeutic use
of gene transfer as well as the first direct insertion of human DNA into the
nuclear genome was performed by French Anderson in a trial starting
in September 1990.

1989 and February 2016, over 2,300 clinical trials had been conducted, more
than half of them in phase I.

Not all medical procedures
that introduce alterations to a patient’s genetic makeup can be considered gene
therapy. Bone marrow transplantation and organ transplants in
general have been found to introduce foreign DNA into patients. Gene therapy is
defined by the precision of the procedure and the intention of direct
therapeutic effects.




Preventive medicine consists of
measures taken for disease prevention, as opposed to disease
treatment. Just as health encompasses a variety of physical and
mental states, so do disease and disability, which are affected
by environmental factors, genetic predisposition, disease agents, and
lifestyle choices. Health, disease, and disability are dynamic processes which
begin before individuals realize they are affected. Disease prevention relies
on anticipatory actions that can be categorized as primal, primary, secondary,
and tertiary prevention.

Each year,
millions of people die of preventable deaths. A 2004 study showed that about
half of all deaths in the United States in 2000 were due to preventable
behaviors and exposures.4 Leading
causes included cardiovascular disease, chronic respiratory disease,
unintentional injuries, diabetes, and certain infectious
diseases. This same study estimates that 400,000 people die each year in
the United States due to poor diet and a sedentary
lifestyle. According to estimates made by the World Health
Organization (WHO), about 55 million people died worldwide in 2011, two
thirds of this group from non-communicable diseases,
including cancer, diabetes, and chronic cardiovascular and lung
diseases. This is an increase from the year 2000, during which 60%
of deaths were attributed to these diseases. Preventive healthcare
is especially important given the worldwide rise in prevalence of chronic
diseases and deaths from these diseases.

There are
many methods for prevention of disease. It is recommended that adults and
children aim to visit their doctor for regular check-ups, even if they feel
healthy, to perform disease screening, identify risk factors for disease,
discuss tips for a healthy and balanced lifestyle, stay up to date with
immunizations and boosters, and maintain a good relationship with a healthcare
provider. Some common disease screenings include checking
for hypertension (high blood pressure), hyperglycemia (high
blood sugar, a risk factor for diabetes mellitus), hypercholesterolemia (high
blood cholesterol), screening for colon
cancer, depression, HIV and other common types of sexually
transmitted disease such as chlamydia, syphilis,
and gonorrhea, mammography (to screen for breast
cancer), colorectal cancer screening, a Pap test (to check
for cervical cancer), and screening for osteoporosis. Genetic testing
can also be performed to screen for mutations that cause genetic
disorders or predisposition to certain diseases such as breast
or ovarian cancer. However, these measures are not affordable for
every individual and the cost effectiveness of preventive healthcare is still a
topic of debate.














The practice of
studying genetic disorders is changing from investigation of single genes in
isolation to discovering cellular networks of genes, understanding their
complex interactions, and identifying their role in disease. As a result of
this, a whole new age of individually tailored medicine will emerge.
Bioinformatics will guide and help molecular biologists and clinical
researchers to capitalize on the advantages brought by computational biology.
The clinical research teams that will be most successful in the coming decades
will be those that can switch effortlessly between the laboratory bench,
clinical practice, and the use of these sophisticated computational tools.











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imaging into molecular medicine: an evolving paradigm, Trends in
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2.     L Pauling, H Itano, SJ Singer, I Wells. “Sickle Cell Anemia, a Molecular
Disease”. Science, 25 November 1949, vol. 110,
no. 2865, pp. 543-548.

3.    BJ Strasser, Perspectives: Molecular Medicine, “Sickle Cell Anemia, a Molecular Disease” Science, 19 November 1999, vol. 286,
no.5444, pp. 1488 – 1490.

4.    RJ Williams (1956) Biochemical
Individuality: The Basis for the Genetotrophic Concept (John Wiley
& Sons, 1956; University of Texas Press, 1969 to 1979; Keats Publishing,
1998, ISBN 0-87983-893-0

5.     MS Runge, C Patterson, VA McKusick, Principles
of Molecular Medicine,
2nd ed, p. 53, Humana Press, 2006 ISBN 1-58829-202-9.

6.     RJ Williams, DK Kalita (1979) Physician’s Handbook on
Orthomolecular Medicine, Keats Publishing, ISBN 0-87983-199-5

7.     Pauling L, “Orthomolecular psychiatry. Varying the
concentrations of substances normally present in the human body may control
mental disease”, Science 19 Apr 1968; 160(825):265-71. (doi:10.1126/science.160.3825.265 PMID 5641253) 1

8.     Izraeli,
Shai; Rechavi, Gideon (August 2002). “Molecular medicine–an
overview”. The
Israel Medical Association journal: IMAJ. 4 (8):
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10.  Friedmann
T. A brief history of gene therapy. Nat Genet 1992;2:93-8.Gossen M, Freundlieb
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