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The Human Genome Project: Impact on Human Health

The Human Genome Project: Impact on Human Health. Pragna Patel, Ph.D. Institute for Genetic Medicine University of Southern California. Variation in DNA sequence can be “silent” or lead to disease. DNA Genetic Code dictates amino acid identity in a protein.

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The Human Genome Project: Impact on Human Health

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  1. The Human Genome Project: Impact on Human Health Pragna Patel, Ph.D.Institute for Genetic MedicineUniversity of Southern California

  2. Variation in DNA sequence can be “silent” or lead to disease

  3. DNA Genetic Code dictates amino acid identity in a protein

  4. Variation in DNA sequence in gene can change the protein produced by the Genetic Code

  5. Types of Inherited Human Diseases • Single gene disorders – rare, familial (Eg. Hemophilia) • Chromosomal abnormalities – typically sporadic (Eg. Down’s syndrome) • Multifactorial disorders (Eg. Arthritis, diabetes) -Several genes involved, complex inheritance • - Environmental factors

  6. Human chromosomes

  7. Genome Chromosome AtcgtacgtaggtcagtttaccggtaccatgtataggtacccgggtaccctaccccggcaccTAgcatcatataggacacatactgatcatgcattacggatcgtacgtaggtcagtttaccggtaccatgtataggtacccgggtaccctacccgggga Normal atcgtacgtaggtcagtttaccggtaccatgtataggtacccgggtaccctaccccggcaccAagcatcatataggacacatactgatcatgcattacggatcgtacgtaggtcagtttaccggaccatgtataggtacccgggtaccctacccaggga Patient Gene Challenge of discovering a mutation in the genome

  8. 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

  9. 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

  10. 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

  11. 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

  12. Linkage I. 1 2 A a A A N N N D B B b B II. 1 2 3 4 5 6 A A A a A A a A A A A a N N N N N N D N D N N D B b B b B B B B B B B b Tracking a disease mutation-bearing chromosome in a family

  13. 1-5 Million base pairs Human genome sequence …..CGACCGGTATGCGATGACTGGTCATGTACTTACTATTC…. Gene content map Gene .......C C T A C......... Normal DNA sequence .......C T T A C......... Patient FINE MAPPING AND MUTATION IDENTIFICATION Post-genome era

  14. 2008 Cumulative Pace of Monogenic Disease Gene Discovery: 1981 - 2008 PCR Draft sequence HGP

  15. Impact of Human Genome Project (HGP)

  16. 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

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