The Human Genome Project: Impact on Human Health

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The Human Genome Project Impact on Human Health
Pragna Patel, Ph.D.Institute for Genetic
MedicineUniversity of Southern California
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Variation in DNA sequence can be silent or lead
to disease
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DNA Genetic Code dictates amino acid identity in
a protein
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Variation in DNA sequence in gene can change the
protein produced by the Genetic Code
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Types of Inherited Human Diseases

• Single gene disorders rare, familial (Eg.
  Hemophilia)

• Chromosomal abnormalities typically sporadic
  (Eg. Downs syndrome)

• Multifactorial disorders (Eg. Arthritis,
  diabetes) -Several genes involved, complex
  inheritance
• - Environmental factors

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Human chromosomes
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Challenge of discovering a mutation in the genome
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Goals of the Human Genome Project (1990)

• Identify all the genes in human DNA (now
  estimated at 25,000)
• Determine the sequence of 3 billion chemical base
  pairs that make up human DNA
• Determine the sequence of model organisms for
  comparison to human DNA sequence

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Goals of the Human Genome Project (1990)

• Store the information in databases
• Improve tools for data analysis
• Transfer related technologies to the private
  sector
• Address the ethical, legal, and social issues
  (ELSI) that may arise from the project

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The Human Genome Project Why?
Sequence Genome
Genetic Mapping, Mutation Detection
Find Genes
Establish Function and Disease Mechanism
Diagnostics/ Prognostics
Cure
Drug Candidates
Gene Therapy
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Requisites for genetic mapping of a disease to a
chromosome
1. Families with the disease 2. Accurate
diagnosis 3. Defined pattern of
inheritance 4. Polymorphic DNA markers
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Tracking a disease mutation-bearing chromosome in
a family
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FINE MAPPING AND MUTATION IDENTIFICATION
Post-genome era
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Cumulative Pace of Monogenic Disease Gene
Discovery 1981 - 2008
Draft sequence
PCR
HGP
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Impact of Human Genome Project (HGP)
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Current Status of DNA testing for single gene
disorders
Directory of International Testing Laboratories
www.genetests.org 575 Clinical and research
laboratories 1115 Inherited diseases