HGP PDF
HGP PDF
Defination:-
The Human Genome Project (HGP) is an international,interdisciplinary,
scientific research project aimed at determining the sequence of chemical
base pairs which make up human DNA, mapping the entire human gen-
ome, and identifying its complex structures and function
Introduction:-
The Human Genome Project (HGP) is an international, interdisciplinary,
scientific research project aimed at determining the sequence of chemical base
pairs which make up human DNA, mapping the entire human genome, and
identifying its complex structures and functions. The outcomes of the project
have been established as open and accessible to all. Leading healthcare, re-
search, and disease advocacy organizations from more than 40 countries co-
ordinated a global alliance for genetic health dedicated to enabling the secure
sharing of genomic and clinical data in a standardized (technical and regulat-
ory), effective, and responsible manner. Sequencing the human genome in its
entirety substantially furthers our understanding of human evolution, the causes
and mechanisms of disease, and the complex interactions between genes and en-
vironment. Challenges over the next decade include interpreting the contents of
all the sequenced genes and understanding how they function. Genome-based
research will eventually enable medical science to develop highly effective dia-
gnostic tools, to better understand health needs based on individual genetic
make-ups, and to design new, personalized treatments for disease
History:-
The first analyses of the draft human genome sequence were reported
in the February 2001 issues of Science and Nature. The Nature publications in-
cluded initial sequence analyses generated by the publicly sponsored HGP (see
Lander et al. 2001), while the Science publications focused on the draft se-
quence reported by the private company Celera Genomics (see Venter et al.
2001). In 2003, the HGP was declared complete (Human Genome Project In-
formation Archive – HGPIA 2015).The studies announcing completion reported
99% of the euchromatic human genome with 99.99% accuracy (International
Human Genome Sequencing Consortium – IHGSC 2004), followed by a major
quality assessment of the human genome sequence that indicated over 92% of
sampling exceeded 99.99% accuracy (Schmutz et al. 2004). At the time, the hu-
man genome was estimated to contain approximately 20,000–25,000 genes. The
main differences between the draft (Lander et al. 2001; Venter et al. 2001) and
finished versions of the human genome sequence (IHGSC 2004) were the per-
centages of genome covered, the number of gaps, and the error rates. The draft
sequence covered 90% of the genome at an error rate of 1 in 1,000 base pairs,
and there were over 150,000 gaps, with only 28% of the genome reaching fin-
ished standard. In the finished version, there were less than 400 gaps, and 99%
of the genome was sequenced with an error rate of less than 1 in 10,000 base
pairs. These differences are significant for scientists using the sequence to con-
duct research (NHGRI 2010). After the human genome sequencing was com-
plete, the US Department of Justice filed a court brief stating that genes should
not be eligible for patents because they are products of nature. Thus, the human
genome database is publicly available to anyone (see The Genome Database –
GDB, gdb. org)
Analyses of the HGP data are ongoing (see HGPIA 2015). For in-
stance, in 2012, the Encyclopedia of DNA Elements (i.e., ENCODE) published
results from a cross-consortium integrative analysis, covering more than four
million regulatory regions in the human genome in 30 coordinated papers in
Nature, Science, and other journals (see encodeproject.org). The ENCODE
website allows readers to follow a topic through all the papers in a publication
set. In 2013, over 70 leading healthcare, research, and disease advocacy organ-
izations from more than 40 countries coordinated a global alliance for genetic
health dedicated to enabling the secure sharing of genomic and clinical data in a
standardized (technical and regulatory), effective, and responsible manner
Application:-
Sequencing the human genome in its entirety substantially furthers our
understanding of human evolution, the causes and mechanisms of disease, and
the complex interactions between genes and environment. The HGP import-
antly contributes to health improvement in many ways. For example, individual-
ized analysis based on a person’s unique DNA has the potential to be a power-
ful tool for medical prevention and treatment (NHGRI 2010). Physicians will be
able to better predict future risks of illness onset and potentially 2 Human Gen-
ome Project harmful behaviors that impact each individual. Nurses, genetic
counselors, and other healthcare professionals will be able to focus their efforts
on aspects that are most likely to maintain or improve individual patients’
health. These aspects may include personalized dietary and lifestyle changes
and targeted medical monitoring. Understanding of prevalent diseases such as
diabetes, heart disease, and schizophrenia at the genetic and molecular level
may revolutionize healthcare through earlier, more precise, detection and, there-
fore, intervention.
Application of new and more effective drugs based on the
completed genome sequencing are at least 10–15 years in the future, although
more than 350 biotech products – many based on the HGP – are currently in
clinical trials (NHGRI 2010). Usually, it takes over a decade for companies to
conduct the clinical studies that are needed for marketing approval from reput-
able institutions. Testing for health risks and genetic predispositions to disease,
however, will arrive more quickly – in particular abilities to predict individual
future health risks and implement an enhanced approach to preventive medi-
cine. Moreover, researchers and physicians will be able to better determine
which drugs will provide the best outcomes for particular individuals, based on
their genetic make-up (NHGRI 2010).
One of the largest challenges over the next decade will be interpreting the con-
tents of all the sequenced genes and understanding how they function including
their role in human health and pathology (NHGRI 2010). Genome-based re-
search will eventually enable medical science to develop highly effective dia-
gnostic tools, to better understand health needs based on individual genetic
make-ups, and to design new, personalized treatments for disease.
Future Diraction :-
The HGP and consequent deeper knowledge of our genome has revolution-
ized the practice of medicine, inspiring several large-scale data acquisition initi-
atives such as the 1000 Genomes Project, the Chimpanzee Genome Project, the
Neanderthal Genome Project, and the Cancer Genome Atlas. Starting in 2008,
an international research initiative called the 1000 Genomes Project set out to
create a complete and detailed catalogue of human genetic variations . Such a
catalogue will be useful in association studies that link genetic variation to dis-
ease. Another related project is the Chimpanzee Genome Project, which was
created in 2003 and aimed to determine the DNA sequence of the chimpanzee
genome. Comparing the genomes of humans and other apes will shed new light
on what makes humans genetically distinct from, and similar to, other species.
Similarly, the Neanderthal Genome Project is an endeavor to sequence the
Neanderthal genome . The Neanderthal Genome Project published their results
in 2010 in Science, detailing an initial draft of the Neanderthal genome based
on the analysis of four billion base pairs of Neanderthal DNA. Other projects in-
spired by the HGP include the Human Brain Project and the emerging Human
Proteome Project, both of which were recently launched and hold great promise
for the future of medicine and psychology (reviewed in Hood and Rowen 2013)
Conclusion :-