Francis Collins
Francis Sellers Collins (lahir 14 April 1950) adalah seorang dokter-ahli genetika asal Amerika Serikat.</ref> It was then determined that a shortcut was needed to speed the process of identification, so Tsui contacted Collins, who agreed to collaborate with the Toronto team and share his chromosome-jumping technique. The gene was identified in June 1989,[3][4] and the results were published in the journal Science on September 8, 1989.[5] This identification was followed by other genetic discoveries made by Collins and a variety of collaborators. They included isolation of the genes for Huntington's disease,[6] neurofibromatosis,[7][8] multiple endocrine neoplasia type 1,[9] inv(16) AML[10] and Hutchinson–Gilford progeria syndrome.[11]
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Genomics
In 1993 National Institutes of Health Director Bernadine Healy appointed Collins to succeed James D. Watson as director of the National Center for Human Genome Research, which became National Human Genome Research Institute (NHGRI) in 1997. As director, he oversaw the International Human Genome Sequencing Consortium,[12] which was the group that successfully carried out the Human Genome Project.
In 1994 Collins founded NHGRI's Division of Intramural Research,[13] a collection of investigator-directed laboratories that conduct genome research on the NIH campus.
In June 2000 Collins was joined by President Bill Clinton and biologist Craig Venter in making the announcement of a working draft of the human genome.[14] He stated that "It is humbling for me, and awe-inspiring to realize that we have caught the first glimpse of our own instruction book, previously known only to God."[15][16][17] An initial analysis was published in February 2001, and scientists worked toward finishing the reference version of the human genome sequence by 2003, coinciding with the 50th anniversary of James D. Watson and Francis Crick's publication of the structure of DNA.
Another major activity at NHGRI during his tenure as director was the creation of the haplotype map of the human genome. This International HapMap Project produced a catalog of human genetic variations—called single-nucleotide polymorphisms—which is now being used to discover variants correlated with disease risk. Among the labs engaged in that effort is Collins' own lab at NHGRI, which has sought to identify and understand the genetic variations that influence the risk of developing type 2 diabetes.
In addition to his basic genetic research and scientific leadership, Collins is known for his close attention to ethical and legal issues in genetics. He has been a strong advocate for protecting the privacy of genetic information and has served as a national leader in securing the passage of the federal Genetic Information and Nondiscrimination Act, which prohibits gene-based discrimination in employment and health insurance.[18] In 2013, spurred by concerns over the publication of the genome of the widely used HeLa cell line derived from the late Henrietta Lacks, Collins and other NIH leaders worked with the Lacks family to reach an agreement to protect their privacy, while giving researchers controlled access to the genomic data.[19]
Building on his own experiences as a physician volunteer in a rural missionary hospital in Nigeria,[20] Collins is also very interested in opening avenues for genome research to benefit the health of people living in developing nations. For example, in 2010, he helped establish an initiative called Human Heredity and Health in Africa (H3Africa)[21] to advance African capacity and expertise in genomic science.
Collins announced his resignation from NHGRI on May 28, 2008, but has continued to maintain an active lab there.[22]
NIH director
Nomination and confirmation
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By graduate school Collins considered himself an atheist. However, dealing with dying patients led him to question his religious views, and he investigated various faiths. He familiarized himself with the evidence for and against God in cosmology, and used Mere Christianity by C. S. Lewis as a foundation to re-examine his religious view.[23] He eventually came to a conclusion, and became a Christian during a hike on a fall afternoon. He has described himself as a "serious Christian".[18]
In his 2006 book The Language of God: A Scientist Presents Evidence for Belief, Collins wrote that scientific discoveries were an "opportunity to worship" and that he rejected both Young Earth creationism and intelligent design. His own belief, he wrote, was theistic evolution or evolutionary creation, which he preferred to call BioLogos. He wrote that one can "think of DNA as an instructional script, a software program, sitting in the nucleus of the cell".[24] He appeared in December 2006 on The Colbert Report television show and in a March 2007 Fresh Air radio interview to discuss this book.[25][26] In an interview with D. J. Grothe on the Point of Inquiry podcast he said that the overall aim of the book was to show that "one can be intellectually in a rigorous position and argue that science and faith can be compatible", and that he was prompted to write the book because "most people are seeking a possible harmony between these worldviews [science and faith], and it seems rather sad that we hear so little about this possibility.[27]
Collins is a critic of intelligent design, and for this reason he was not asked to participate in the 2008 documentary Expelled: No Intelligence Allowed. Walt Ruloff, a producer for the film, claimed that by rejecting intelligent design, Collins was "toeing the party line", a claim which Collins called "just ludicrous".[28] In an interview he stated that "intelligent design is headed for collapse in the not too distant future" and that "science class ought to be about science, and opening the door to religious perspectives in that setting is a big mistake."[27] In 2007, Collins founded the BioLogos Foundation to "contribute to the public voice that represents the harmony of science and faith". He served as the foundation's president until he was confirmed as director of the NIH.[29] Collins has also spoken at the Veritas Forum on the relationship between science and religion and the existence of God.[30]
Christopher Hitchens referred to Francis Collins as a 'Great American' and stated that Collins was one of the most devout believers he had ever met.[31] He further stated that Collins was sequencing the genome of the cancer that would ultimately claim Hitchens's life, and that their friendship despite their differing opinion on religion was an example of the greatest armed truce in modern times.
Agnosticism
In an interview with National Geographic in February 2007, writer John Horgan criticized Collins' description of agnosticism as "a cop-out". In response, Collins clarified his position on agnosticism so as to exclude
earnest agnostics who have considered the evidence and still don't find an answer. I was reacting to the agnosticism I see in the scientific community, which has not been arrived at by a careful examination of the evidence. I went through a phase when I was a casual agnostic, and I am perhaps too quick to assume that others have no more depth than I did.[32]
Abortion
In a 1998 interview with Scientific American, Collins stated that he is "intensely uncomfortable with abortion as a solution to anything" and does not "perceive a precise moment at which life begins other than the moment of conception". However, in the same interview it was clarified that Collins also "does not advocate changing the law".[33] -->
Buku
- Principles of Medical Genetics, 2nd Edition, with T.D. Gelehrter and D. Ginsburg (Williams & Wilkins, 1998)
- The Language of God: A Scientist Presents Evidence for Belief (Free Press, 2006)
- The Language of Life: DNA and the Revolution in Personalized Medicine (HarperCollins, published in early 2010)
- Belief: Readings on the Reason for Faith (HarperOne, March 2, 2010)
- The Language of Science and Faith: Straight Answers to Genuine Questions with Karl Giberson IVP Books (February 15, 2011)
Lihat pula
Referensi
- ^ Back to the thesis: Francis Collins di YouTube
- ^ Smith, Kerri; Baker, Noah (2016). "Back to the thesis: Late nights, typos, self-doubt and despair. Francis Collins, Sara Seager and Uta Frith dust off their theses, and reflect on what the PhD was like for them". Nature. 535 (7610): 22–25. doi:10.1038/535022a.
- ^ Pines, Maya (2008). "Blazing a Genetic Trail/.../Jumping Toward the Gene". Howard Hughes Medical Institute. Diakses tanggal October 16, 2011.
- ^ Pines, Maya (2008). "Stalking a Lethal Gene:Discovering the Gene for Cystic Fibrosis". Howard Hughes Medical Institute. Diakses tanggal October 16, 2011.
- ^ Marx, J. (1989). "The cystic fibrosis gene is found". Science. 245 (4921): 923–5. Bibcode:1989Sci...245..923M. doi:10.1126/science.2772644. PMID 2772644.
- ^ MacDonald, M (1993). "A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes". Cell. 72 (6): 971–83. doi:10.1016/0092-8674(93)90585-E. PMID 8458085.
- ^ Rubin, Raphael; Strayer, David S. (2008). Rubin's Pathology: Clinicopathologic Foundation of Medicine (edisi ke-5th). Baltimore: Wolters Kluwer Health: Lippincott Williams & Wilkins. hlm. 201–3. ISBN 978-0-7817-9516-6.
- ^ Fauci; et al. Harrison's Principles of Internal Medicine (Small textbook) (edisi ke-16th). hlm. 2453.
- ^ Chandrasekharappa, S. C.; Guru, S. C.; Manickam, P; Olufemi, S. E.; Collins, F. S.; Emmert-Buck, M. R.; Debelenko, L. V.; Zhuang, Z; Lubensky, I. A.; Liotta, L. A.; Crabtree, J. S.; Wang, Y; Roe, B. A.; Weisemann, J; Boguski, M. S.; Agarwal, S. K.; Kester, M. B.; Kim, Y. S.; Heppner, C; Dong, Q; Spiegel, A. M.; Burns, A. L.; Marx, S. J. (1997). "Positional Cloning of the Gene for Multiple Endocrine Neoplasia-Type 1". Science. 276 (5311): 404–7. doi:10.1126/science.276.5311.404. PMID 9103196.
- ^ Science 261 (5124): 1041–4
- ^ Eriksson, Maria; Brown, W. Ted; Gordon, Leslie B.; Glynn, Michael W.; Singer, Joel; Scott, Laura; Erdos, Michael R.; Robbins, Christiane M.; Moses, Tracy Y.; Berglund, Peter; Dutra, Amalia; Pak, Evgenia; Durkin, Sandra; Csoka, Antonei B.; Boehnke, Michael; Glover, Thomas W.; Collins, Francis S. (2003). "Recurrent de novo point mutations in lamin a cause Hutchinson–Gilford progeria syndrome". Nature. 423 (6937): 293–8. Bibcode:2003Natur.423..293E. doi:10.1038/nature01629. PMID 12714972.
- ^ "International Human Genome Sequencing Consortium," National Human Genome Research Institute
- ^ National Human Genome Research Institute (ed.). "The Division of Intramural Research". Diakses tanggal October 16, 2011.
- ^ Jamie Shreeve, "The Blueprint of Life Diarsipkan November 30, 2007, di Wayback Machine.," U.S. News and World Report, 10/31/05, URL accessed January 30, 2007.
- ^ Simon, Stephanie. "Faithful to God, Science". Los Angeles Times. Diakses tanggal May 3, 2014.
"It is humbling for me, and awe-inspiring," he said, standing at Clinton's side, "to realize that we have caught the first glimpse of our own instruction book, previously known only to God." That moment moved Collins -- who is married and has two grown daughters — to talk more publicly about his faith and to write the book. "It's been a bit like taking a public bath," he said.
- ^ Lennox, John C. (2009). God's Undertaker: Has Science Buried God?. Lion Books. hlm. 176. ISBN 9780745953717.
At the public announcement of the completion of the Human Genome Project, its director, Francis Collins, said: 'It is humbling for me and awe-inspiring to realize that we have caught the first glimpse of our own instruction book, previously known only to God.'
- ^ "President Clinton, British Prime Minister Tony Blair Deliver Remarks on Human Genome Milestone". CNN. June 26, 2000. Diakses tanggal May 3, 2014.
- ^ a b "Transcript, Bob Abernethy's interview with Dr. Francis Collins, director of the Human Genome Project at the National Institutes of Health". PBS, Religion and Ethics Newsweekly. Diakses tanggal October 16, 2011.
- ^ Collins, "The NIH Director: The HeLa Genome: An Agreement on Privacy and Access," National Institutes of Health, undated
- ^ "Scientist at work: Francis S. Collins; unlocking the secrets of the Genome". The New York Times. Nov 1993.
- ^ National Institutes of Health, "NIH and Wellcome Trust Announce Partnership to Support Population-Based Genome Studies in Africa," NIH News, June 22, 2010
- ^ Chemical & Engineering News, Vol. 86 No. 31, August 4, 2008, p. 33, "Francis Collins leaves NIH"
- ^ Steve Paulson, "The Believer," Salon.com, Aug. 7, 2006
- ^ Collins, Francis (September 4, 2008). The Language of God: A Scientist Presents Evidence for Belief. Simon and Schuster. ISBN 9781847396150.
- ^ "Francis Collins". The Colbert Report. December 6, 2006. Diakses tanggal October 18, 2009.
- ^ "Francis Collins on 'The Language of God'". Fresh Air. 2007-03-29.
- ^ a b D.J. Grothe (August 31, 2007). "Dr. Francis Collins - The Language of God". Point of Inquiry. Diakses tanggal September 3, 2015.
- ^ Dean, Cornelia (September 27, 2007). "Scientists Feel Miscast in Film on Life's Origin". The New York Times. Diakses tanggal May 2, 2010.
- ^ BioLogos website
- ^ http://veritas.org/speakers/francis-collins/
- ^ https://www.youtube.com/watch?v=hc6UdA3TtWY
- ^ Francis Collins: The Scientist as Believer Feb. 2007
- ^ Beardsley T (1998). "Profile: Where Science and Religion Meet". Scientific American. 278 (2): 28–29.
Pustaka tambahan
- "Dr. Francis S. Collins: On The Trail Of Disease Genes". Businessweek. John Carey. May 9, 2005
- "Collins Forms BioLogos Foundation". Newsletter of the American Scientific Affiliation. Jul/Aug 2009
Pranala luar
| Jabatan politik | ||
|---|---|---|
| Didahului oleh: Raynard Kington Acting |
Director of the National Institutes of Health 2009–present |
Petahana |
Templat:National Institutes of Health Templat:Winners of the National Medal of Science