The document discusses the principal aims and applications of the Human Genome Project. The three main aims are to improve human genetics research infrastructure, establish DNA sequence as the interface between human and model organism biology, and improve DNA analytical biochemistry. Key applications discussed are molecular medicine like disease diagnosis, and using microbial genomes to research waste control and environmental cleanup. It provides examples of how genome sequencing is advancing fields like medicine, biotechnology, and environmental applications.

5. Principal Aims of the Human Genome
Project
Human Genome Project are three broader
aims that are implicit in these goals:
To improve the research infrastructure of
human genetics.
To help establish DNA sequence as the
primary interface between knowledge of
human biology and knowledge of the biology
of model organisms.
 To improve the analytical biochemistry of
DNA.

7. Applications
1.MOLECULAR MEDICINE
2.WASTE CONTROL AND
ENVIRONMENTAL CLEANUP

8. MOLECULAR MEDICINE
Diagnosis of disease and disease risk
(a) when a patient presents with symptoms
(b) in advance of appearance of symptoms
[eg]Huntigton disease (an inherited
neurodegenerative disorder)
 symptoms: uncontrollable dance-like
(choreatic) movements, mental disturbance,
personality changes and intellectual
impairment

9. Waste Control and Environmental
Cleanup
In 1994, through advances gained by the HGP, the DOE
formulated the Microbial Genome Initiative to sequence the
genomes of bacteria useful in the areas of energy
production, environmental remediation, toxic waste
reduction, and industrial processing. Resulting from that
project, six microbes that live under extreme temperature
and pressure conditions have been sequenced. By learning
the unique protein structure of these microbes, researchers
may be able to use the organisms and their enzymes for
such practical purposes as waste control and environmental
cleanup.

10. WHICH BRANCHES OF BIOLOGY WILL
BENEFIT FROM THIS KNOWLEDGE?
•Medicine
•Pharmacogenomics
•Biotechnology
•Bioinformatics
•Proteomics

11. Waste Control and Environmental
Cleanup
In 1994, through advances gained by the HGP, the DOE
formulated the Microbial Genome Initiative to sequence the
genomes of bacteria useful in the areas of energy
production, environmental remediation, toxic waste
reduction, and industrial processing. Resulting from that
project, six microbes that live under extreme temperature
and pressure conditions have been sequenced. By learning
the unique protein structure of these microbes, researchers
may be able to use the organisms and their enzymes for
such practical purposes as waste control and environmental
cleanup.

12. BENEFITS OF HUMAN GENOME
PROJECT RESEARCH
- improvements in
medicine.
- microbial genome
research for fuel and
environmental cleanup.
- DNA forensics.
- improved agriculture and
livestock.
- better understanding of
evolution and human
migration.
- more accurate risk
assessment.

13. HUMAN GENOME PROJECT – APPROACH USED
 Concept
 Produce ever more detailed maps of chromosomes
 1. Genetic linkage map (low resolution)
 Relative order & spacing of disease linked genes (not physical
map)
 2. Combine with STS/EST (sequence tag site/
expressed sequence tag) maps
 Position of unique DNA sequences (physical map)
 Linkage data to disease genes
 Pain stakingly slow, but links to useful disease
information
 Alternatively SHOTGUN sequencing
–3. Chop chromosome -
small, overlapping
fragments
–Sequence
–Computers align
overlapping sequences

19. HUMAN GENOME PROJECT
 Results
 Complete sequencing of the Human Genome
 New branch of science and medicine –
Genomics