Principal Aims of the Human Genome ProjectHuman 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.

Applications

1.MOLECULAR MEDICINE2.WASTE CONTROL AND ENVIRONMENTAL CLEANUP

MOLECULAR MEDICINEDiagnosis 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

Waste Control and Environmental CleanupIn 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.

WHICH BRANCHES OF BIOLOGY WILL BENEFIT FROM THIS KNOWLEDGE?

•Medicine•Pharmacogenomics•Biotechnology•Bioinformatics•Proteomics

Waste Control and Environmental CleanupIn 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.

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.

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

HUMAN GENOME PROJECT Results

Complete sequencing of the Human Genome New branch of science and medicine –

Genomics