The Human Genome Project (HGP) What is the HGP

Transcription

1 The Human Genome Project (HGP) What is the HGP

2 Human Genome Project Identify human genes NIH DOE 9 Sequence 3 * 10 bases of the human genome The goals of HGP 1. To generate a high-quality reference DNA sequence for the human genome s 3 billion base pairs 2. To identify all human genes 3. To sequence the genomes of model organisms to interpret human DNA 4. To enhance computational resources to support future research and commercial applications 5. To explore gene function through mouse-human comparisons 6. To address the ethical, legal, and social issues (ELSI) that may arise from the project

3 History of the HGP Major Events in the HGP 1990 DOE and NIH present joint 5-year U.S. HGP plan to Congress. The 15-year project formally begins Human chromosome mapping data repository, GDB, established 1993 DOE and NIH revise 5-year goals 1995 First (nonviral) whole genome sequenced (for the bacterium Haemophilus influenzae) Saccharomyces cerevisiae (yeast) genome sequence completed 1997 Escherichia coli genome sequence completed Human Genome Project passes midpoint.

4 Major Events in the HGP 1999 First Human Chromosome Completely Sequenced-- human chromosome HGP leaders and President Clinton announce the completion of a "working draft" DNA sequence of the human genome Publication of Initial Working Draft Sequence February 12, 2001 Special issues of Science (Feb. 16, 2001) and Nature (Feb. 15, 2001) 2002 Mouse Genome Sequencing Consortium publishes its draft sequence of mouse genome in the December 5, 2002, issue of Nature Human Genome Project Completion, April 2003 What We ve Learned So Far from the HGP

5 What We've Learned Thus Far Humans have an estimated 30,000 genes; the functions of more than half of them are unknown Only about 2% of the human genome contains genes, which are the instructions for making proteins What We've Learned Thus Far Almost half of all human proteins share similarities with other organisms, underscoring the unity of live The human genome is nearly the same (99.9%) in all people

6 What We've Learned Thus Far...the more we learn about the human genome, the more there is to explore. Potential Benefits of Human Genome Project Research

7 Molecular Medicine and New Genetics Improve diagnosis of disease Detect genetic predispositions to disease Create drugs based on molecular information Use gene therapy and control systems as drugs Design custom drugs based on individual genetic profiles Microbial Genomics Rapidly detect and treat pathogens (diseasecausing microbes) in clinical practice Develop new energy sources (biofuels) Monitor environments to detect pollutants Protect citizenry from biological and chemical warfare Clean up toxic waste safely and efficiently

8 Risk Assessment Assess health damage and risks caused by radiation exposure, including low-dose exposures Assess health damage and risks caused by Exposure to mutagenic chemicals and cancercausing toxins Reduce the likelihood of heritable mutations Bioarchaeology, Anthropology, Evolution, and Human Migration Study evolution through germline mutations in lineages Study migration of different population groups based on maternal genetic inheritance Study mutations on the Y chromosome to trace lineage and migration of males Compare breakpoints in the evolution of mutations with ages of populations and historical events

9 DNA Identification Identify potential suspects whose DNA may match evidence left at crime scenes Exonerate persons wrongly accused of crimes Identify crime, catastrophe, and other victims Establish paternity and other family relationships Identify endangered and protected species as an aid to wildlife officials (could be used for prosecuting poachers) DNA Identification (cont.) Detect bacteria and other organisms that may pollute air, water, soil, and food Match organ donors with recipients in transplant programs Determine pedigree for seed or livestock breeds Authenticate consumables such as caviar and wine

10 Agriculture, Livestock Breeding, and Bioprocessing Grow disease-, insect-, and drought-resistant crops Breed healthier, more productive, diseaseresistant farm animals Grow more nutritious produce Develop biopesticides Incorporate edible vaccines into food products Develop new environmental cleanup uses for plants like tobacco Ethical, Legal, and Social Issues (ELSI) of the HGP

11 ELSI of the HGP * Fairness in the use of genetic information * Privacy and confidentiality * Psychological impact and stigmatization * Genetic testing * Reproductive issues * Gene therapy * Genetic enhancement * Fairness in the use of genetic technologies * Clinical issues * Commercialization * Conceptual and philosophical implications Beyond the Human Genome Project --- What s Next? Resource: DOEgenomics.org

12 New Scientific Discovery Paths Enabled by DNA Sequences and Technologies Scientific Discovery Path Explore how DNA impacts HEALTH Identify and understand the differences in DNA sequence (A, T, C, G) among human populations 12

13 Scientific Discovery Path Understand what all the GENES do Discover the functions of human genes by experimentation and by finding genes with similar functions in the mouse, yeast, fruit fly, and other sequenced organisms Scientific Discovery Path Learn what the rest of the human genome does Identify important elements in the nongene regions of DNA that are present in many different organisms, including humans 13

14 Scientific Discovery Path Understand how the genome enables life Explore life at the ultimate level of the whole organism instead of single genes or proteins. The DOE Genomes to Life program provides a foundation for this understanding by using the information found in the genomes of microbes, life s simplest organisms, to study how proteins the products of genes carry out all activities of living cells. Diverse Applications of DNA Data and Technologies

15 Diverse Applications Medicine Develop more accurate and rapid diagnostics Design customized treatments Diverse Applications Microbes for energy and the environment Microbes thrive in every environment on earth, but the vast majority DO NOT cause disease. Understanding them at a basic level will enable use of their diverse and sophisticated abilities. Clean up toxic wastes Capture excess carbon to help reduce global climate change Generate clean energy sources (e.g., hydrogen) 15

16 Diverse Applications Bioanthropology Understand human lineage Explore migration patterns through time Diverse Applications agriculture, livestock breeding, bioprocessing Make crops and animals more resistant to diseases, pests, and environmental conditions Grow more nutritious and abundant produce Incorporate vaccines into food products Develop more efficient industrial processes 16

17 Diverse Applications DNA identification Identify kinships, catastrophe victims Exonerate or implicate people accused of crimes Identify contaminants in air, water, soil, food Confirm pedigrees of animals, plants, foods, wines