This document is not about ways to keep cool in Kathmandu. It discusses the Human Genome Project.

1. Human Genome Project
(HGP)
Human Genome Project
(HGP)
Tapeshwar Yadav
(Lecturer)
BMLT, DNHE,
M.Sc. Medical Biochemistry

2. Human Genome Project (HGP)
 HGP was conceived in 1984 & officially begun in earnest
in October 1990.
 HGP is a large multicentric, international collaborative
venture, the main aim of which is to determine the
nucleotide sequence of the entire human nuclear genome.
 In 1997, United States established the National Human
Genome Research Institute (NHGRI).
The HGP was an international research groups from six
countries- USA, UK, France, Germany, Japan and China, &
several laboratories and a large no. of scientists and
technicians from various disciplines.

3.  This collaborative venture was named as International
Human Genome Sequencing Consortium (IHGSC).
The main objectives set out early in history of the
project include:
1. To obtain complete sequence of pooled DNA extracted
from cells donated by several anonymous donors, so as to
determine the sequence of DNA in each chromosome.
2. To construct genetic map for facilitating genetic linkage
studies.
3. To discover all human genes to allow further study of
human genetic diseases.
4. To develop simplified and automated technology for
DNA sequencing process.

4.  The HGP results attracted worldwide attention. This
achievement was hailed with many description in
the media.
 The mystery of life unravelled.
 The library of life.
 The periodic table of life.
 The Holy grail of human genetics.
 The total no. of genes in the human genome is in the
range of 33,000 to 44,000.
 Approximately 75% of these genes have the same
DNA sequence in all individuals, except for those
with rare mutations.

5.  Any two human genomes are approximately 99.9%
identical in sequence. The apparently insignificant
difference of 0.1% has a highly significant effect on
personality, behaviour, intelligence, disease
susceptibility and other traits.

6. Goals for the HGP
1. Establish the complete human genome sequence
and to make it freely accessible
2. Improve the sequencing technology by
developing new and more effective methods
3. Analyze sequence variations in the human
genome, such as single nucleotide
polymorphisms (SNPs) and other DNA sequence
variations

7. 4. Develop technology for functional genomics. It
includes: development of additional cDNA
resources and technology for detailed analysis of
gene expression; comprehensive study of functions
of non-protein coding sequences; and encourage
development of technology for global protein
analysis.
5. Study comparative genomics by completing the
genome sequence of some model organism (e.g.
Mouse etc) which would enhance our
understanding of the human genome

8. 6. Consider ethical, legal and social implications of
the vastly expanding knowledge base. It is
anticipated that clash of this new and advanced
knowledge with the pre-existing ethical and
philosophical perspectives may result in
undesirable consequences, which have to be taken
care of.
7. Develop bioinformatics and computational
biology, to impart advanced training to young
scientists and encourage establishment of
academic careers in genomic research.

9. Medical Implications
 The medical implications of the huge amount of
genetic information obtained from the HGP are
tremendous
 It would serve as resource for identification of the
human disease gene.
 For example the oncogenic sequence changes in
cancer cells can be directly identified by comparing
cancer genome sequences against draft genome.

10. Contd…
Advancement in biotechnology with regard to
development of useful genes would expand the
scope of gene therapy and open new ways of
combating disease.
It may even initiate new fields such as
pharmacogenomics which would individualized
therapies depending on genetic make up of the
patient

11. Applications of HGP
1. Identification of human genes and their functions.
2. Understanding of polygenic disorders e.g. cancer,
hypertension, diabetes.
3. Improvements in gene therapy
4. Improved diagnosis of diseases
5. Development of pharmacogenesis.

12. 6. Genetic basis of psychiatric disorders.
7. Understanding of complex social trait.
8. Improved knowledge on mutations.
9. Better understanding of developmental biology.
10. Development of biotechnology.

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