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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 Variation in DNA sequence in gene can change the protein produced by the Genetic Code 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 Human chromosomes Challenge of discovering a mutation in the genome Genome Atcgtacgtaggtcagttt accggtaccatgtatagg tacccgggtaccctaccc Chromosome T cggcacc Agcatca tataggacacatactgat catgcattacggatcgta cgtaggtcagtttaccggt accatgtataggtacccg ggtaccctacccgggga atcgtacgtaggtcagttt accggtaccatgtatagg tacccgggtaccctaccc A Gene cggcacc agcatca tataggacacatactgat catgcattacggatcgta cgtaggtcagtttaccgg accatgtataggtacccg ggtaccctacccaggga Normal Patient 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 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 The Human Genome Project: Why? Sequence Genome Find Genes Establish Function and Disease Mechanism Drug Candidates Cure Genetic Mapping, Mutation Detection Diagnostics/ Prognostics Gene Therapy 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 Tracking a disease mutation-bearing chromosome in a family Linkage I. 1 II. 1 2 A N A N A N a D B B b B 2 3 4 5 6 A N a D A N A N A N a D A N A N A N A N A N a D B B B b B b B B B b B B FINE MAPPING AND MUTATION IDENTIFICATION Post-genome era 1-5 Million base pairs …..CGACCGGTATGCGATGACTGGTCATGTACTTACTATTC…. Human genome sequence Gene content map Gene Normal .......C C T A C......... Patient .......C T T A C......... DNA sequence Cumulative Pace of Monogenic Disease Gene Discovery: 1981 - 2008 PCR HGP Draft sequence Impact of Human Genome Project (HGP) Disease Pre- HGP Friedreich ataxia 13 years Huntington disease 10 years Spinocerebellar ataxia type 1 7 years Post-HGP Molar hypodontia <2 months Congenital tufting enteropathy <2 months 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