© Copyright 2010 Robert D. Conway All Rights Reserved Who Invented It? The Controversial History of Technology and Invention

© Copyright 2010 Robert D. Conway All Rights Reserved The Human Genome Venter vs. Collins

© Copyright 2010 Robert D. Conway All Rights Reserved References DeJauregui, Ruth, “100 Medical Milestones That Shaped World History”, Bluewood Books, San Mateo, CA, 1998 Hellman, Hal, “Great Feuds in Technology”, John Wiley & Sons, Hoboken, NJ, 2004 Keim, Brandon, “New Genome Map Shows We’re Way More Diverse Than We Thought”, Wired.com, September 4, 2007 Access Excellence; Oak Ridge National Lab human genome site: Dolan DNA Learning Center Funding-from-Congress-for-the-Human-Genome-Project-Ari- Patrinos.html J. Craig Venter Institute, Wikipedia.org for articles on Watson, Venter, DNA, Human Genome

© Copyright 2010 Robert D. Conway All Rights Reserved DNA – Deoxyribonucleic Acid DNA molecule is made of millions of chemical building blocks called bases. There are only four bases: adenine, thymine, cytosine, and guanine The order in which the bases occur determines the information (analogy: a letter of the alphabet) Each molecule is made up of 50 to 250 million bases housed in a chromosome Only about 3% of the information is used: 97% is “junk”

© Copyright 2010 Robert D. Conway All Rights Reserved Chromosomes and Genes DNA resides in the nucleus of each of the body's trillions of cells Each cell contains the same DNA in 46 molecules called chromosomes A gene is any given segment along the DNA that encodes instructions for a cell to produce a product - typically, a protein - that initiates a specific action. 50,000 and 100,000 genes (words) and each gene is made up of thousands, hundreds of thousands, of chemical bases.

© Copyright 2010 Robert D. Conway All Rights Reserved Gene Expression Different genes are activated in different cells, creating the specific proteins that give a particular cell type its character. 3 billion combinations constitute the human genome Analogy: the letters (genes) are assembled in sequences to form 3 billion words in “the book of life”

© Copyright 2010 Robert D. Conway All Rights Reserved The Human Genome Project Determine the sequences of the 3 billion chemical base pairs that make up human DNA 46 chromosomes containing 20,000 to 25,000 genes each

© Copyright 2010 Robert D. Conway All Rights Reserved The Human Genome Project coordinated by DoE and NIH Wellcome Trust (U.K.) became a major partner; contributions from Japan, France, Germany, China, others Identify the 20,000-25,000 genes in human DNA Determine the sequences of 3 billion chemical base pairs in human DNA Store information in public databases Improve data analysis tools; transfer technologies to the private sector

© Copyright 2010 Robert D. Conway All Rights Reserved James Watson James Watson – shared Nobel Prize in 1962 with Francis Crick and Maurice Wilkins for description of DNA double helix structure in 1953 Led initial NIH HGP effort Clashed with NIH on decision to patent hundreds of human gene fragments Standard approach: work on one gene at a time Rosalind Franklin

© Copyright 2010 Robert D. Conway All Rights Reserved Craig Venter NIH employee; isolated hundreds of gene fragments, applied for NIH patents Developed Expressed Sequence Tags (EST) to work on up to 500 genes simultaneously Since only 3% of human genes are “expressed” – concentrate on those Venter: sequence first, map later Watson: map first, then sequence 1992 Venter leaves NIH to found The Institute for Genomic Research (TIGR) and Human Genome Sciences

© Copyright 2010 Robert D. Conway All Rights Reserved Francis Collins Univ. of Michigan replaces Watson at NIH Leads the NIH approach of map first, then sequence $1.9B of $3B spent; only 3% of genome mapped

© Copyright 2010 Robert D. Conway All Rights Reserved The Race NIH/Collins – slow and methodical, complete information on map Venter – very fast, partial information, sequence 3% expressed Venter completes first sequencing of a free living organism, Haemophilus influenzae 1998 – Venter proposes they join forces, Collins demurs Venter uses information from NIH, published nightly on GenBank web site in his “whole genome shotgun” (WGS) approach Collins speeds up the NIH to try to keep pace with Venter

© Copyright 2010 Robert D. Conway All Rights Reserved The Truce 1999 – Venter announces sequencing 1billion base pairs 2000 Venter claims his sequence is 99% complete; Collins’ work at NIH is 90% complete, challenges Venter’s work Pres. Clinton forces a Whitehouse announcement June 26, 2000 with Venter and Collins that the work is complete Craig Venter, Ari Patrinos (DoE genome mapping project director), Francis Collins the White House 6/26/2000

© Copyright 2010 Robert D. Conway All Rights Reserved Epilogue Venter publishes his human genome results Acrimonious and personal attacks in scientific journals continued through Venter is pushed out of Celera; establishes a not-for-profit sequencing institute HGP publishes results 2006 – five sequencing institutes including TIGR combine in the J. Craig Venter Institute 2006: Collins publishes “The Language of God: A Scientist Presents Evidence for Belief”

© Copyright 2010 Robert D. Conway All Rights Reserved Comedy Central - The Colbert Report 12/7/06 Colbert Report interview with Francis Collins deo= /27/07 Colbert Report interview with Craig Venter deo=82848 Blog: colbert-decide-francis-collins-vs.html