Francis Collins: Perbedaan antara revisi

{{Infobox officeholder

| name = Francis Collins

| office = Direktur [[National Institutes of Health]]

| birth_name = Francis Sellers Collins

| birth_date = {{birth date and age|1950|04|14}}

| party =

| spouse = Diane Baker

| religion = [[Kristen]]

| module = {{Infobox scientist

'''Francis Sellers Collins''' ({{lahirmati|Virginia, Amerika Serikat| 14|4| 1950}}) adalah seorang [[dokter]]-ahli [[genetika]] asal [[Amerika Serikat]]. Ia terkenal berkat penemuan-penemuannya mengenai gen-gen penyakit dan kepemimpinannya pada [[Human Genome Project]]. Ia menjabat sebagai direktur [[National Institutes of Health]] (NIH) di Bethesda, Maryland, Amerika Serikat.

 

 

Collins juga menulis sejumlah buku dalam bidang sains, kedokteran, dan agama, termasuk buku terlaris menurut ''[[New York Times]]'', ''[[The Language of God: A Scientist Presents Evidence for Belief]]''.

 

 

== Masa muda ==

 

 

== Penelitian genetika ==

 

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Several scientific teams worked in the 1970s and 1980s to identify genes and their loci as a cause of [[cystic fibrosis]]. Progress was modest until 1985, when [[Lap-Chee Tsui]] and colleagues at Toronto's Hospital for Sick Children identified the locus for the gene.<ref>{{cite journal |last=Tsui |first=LC |author2=Buchwald M |author3=Barker D |title=Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker |url=https://archive.org/details/sim_science_1985-11-29_230_4729/page/1054 |journal=Science |date=November 29, 1985 |volume=230 |issue=4729 |pages=1054–1057 |doi=10.1126/science.2997931 |bibcode = 1985Sci...230.1054T }}<!--|accessdate=May 9, 2014--><!--</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,<ref>{{cite web |url=http://www.hhmi.org/genetictrail/a120.html |title=''Blazing a Genetic Trail/.../Jumping Toward the Gene'' |author=Pines, Maya |publisher=Howard Hughes Medical Institute |year=2008 |accessdate=October 16, 2011}}</ref><ref>{{cite web |url=http://www.hhmi.org/genetictrail/a130.html |title=''Stalking a Lethal Gene:Discovering the Gene for Cystic Fibrosis'' |author=Pines, Maya |publisher=Howard Hughes Medical Institute |year=2008 |accessdate=October 16, 2011}}</ref> and the results were published in the journal ''[[Science (journal)|Science]]'' on September 8, 1989.<ref>{{cite journal |last1=Marx |first1=J. |year=1989 |title=The cystic fibrosis gene is found |journal=Science |volume=245 |issue=4921 |pages=923–5 |bibcode=1989Sci...245..923M |doi=10.1126/science.2772644 |pmid=2772644}}</ref> 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]],<ref>{{cite journal |last1=MacDonald |first1=M |year=1993 |title=A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes |journal=Cell |volume=72 |issue=6 |pages=971–83 |doi=10.1016/0092-8674(93)90585-E |pmid=8458085}}</ref> [[neurofibromatosis]],<ref>{{cite book |title=Rubin's Pathology: Clinicopathologic Foundation of Medicine |first1=Raphael |last1=Rubin |first2=David S. |last2=Strayer |publisher=Wolters Kluwer Health: Lippincott Williams & Wilkins |edition=5th |date=2008 |location=Baltimore |pages=201–3 |isbn=978-0-7817-9516-6}}</ref><ref>{{cite book |author=Fauci|title=Harrison's Principles of Internal Medicine (Small textbook) |edition=16th |pages=2453|display-authors=etal}}</ref> [[multiple endocrine neoplasia type 1]],<ref>{{cite journal |last1=Chandrasekharappa |first1=S. C. |last2=Guru |first2=S. C. |last3=Manickam |first3=P |last4=Olufemi |first4=S. E. |last5=Collins |first5=F. S. |last6=Emmert-Buck |first6=M. R. |last7=Debelenko |first7=L. V. |last8=Zhuang |first8=Z |last9=Lubensky |first9=I. A. |last10=Liotta |first10=L. A. |last11=Crabtree |first11=J. S. |last12=Wang |first12=Y |last13=Roe |first13=B. A. |last14=Weisemann |first14=J |last15=Boguski |first15=M. S. |last16=Agarwal |first16=S. K. |last17=Kester |first17=M. B. |last18=Kim |first18=Y. S. |last19=Heppner |first19=C |last20=Dong |first20=Q |last21=Spiegel |first21=A. M. |last22=Burns |first22=A. L. |last23=Marx |first23=S. J. |year=1997 |title=Positional Cloning of the Gene for Multiple Endocrine Neoplasia-Type 1 |journal=Science |volume=276 |issue=5311 |pages=404–7 |doi=10.1126/science.276.5311.404 |pmid=9103196}}</ref> inv(16) AML<ref>Science 261 (5124): 1041–4</ref> and [[Hutchinson–Gilford progeria syndrome]].<ref>{{cite journal |last1=Eriksson |first1=Maria |last2=Brown |first2=W. Ted |last3=Gordon |first3=Leslie B. |last4=Glynn |first4=Michael W. |last5=Singer |first5=Joel |last6=Scott |first6=Laura |last7=Erdos |first7=Michael R. |last8=Robbins |first8=Christiane M. |last9=Moses |first9=Tracy Y. |last10=Berglund |first10=Peter |last11=Dutra |first11=Amalia |last12=Pak |first12=Evgenia |last13=Durkin |first13=Sandra |last14=Csoka |first14=Antonei B. |last15=Boehnke |first15=Michael |last16=Glover |first16=Thomas W. |last17=Collins |first17=Francis S. |year=2003 |title=Recurrent de novo point mutations in lamin a cause Hutchinson–Gilford progeria syndrome |journal=Nature |volume=423 |issue=6937 |pages=293–8 |bibcode=2003Natur.423..293E |doi=10.1038/nature01629 |pmid=12714972}}</ref>

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== Genomika ==

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In 1994 Collins founded NHGRI's Division of Intramural Research,<ref>{{cite web |url=http://www.genome.gov/10001036 |title=The Division of Intramural Research |editor=National Human Genome Research Institute |accessdate=October 16, 2011}}</ref> a collection of investigator-directed laboratories that conduct genome research on the NIH campus.

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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' [http://www.genome.gov/27534095 own lab] at NHGRI, which has sought to identify and understand the genetic variations that influence the risk of developing [[type 2 diabetes]].

 

[[Berkas:Francis Collins with Kathleen Sebelius after swearing-in ceremony.jpg|ka|jmpl|Collins berjabat tangan dengan Health and Human Services Secretary [[Kathleen Sebelius]] setelah upacara pelantikan.]]

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''[[Science (Journal)|Science]]'' writer Jocelyn Kaiser opined that Collins was "known as a skilled administrator and excellent communicator," that Obama's nomination "did not come as a big surprise" and that the appointment "ignited a volley of flattering remarks from researchers and biomedical groups." Yet, she wrote, Collins "does have his critics," some of them who were concerned with the new director's "outspoken Christian faith."<ref>{{cite journal |last1=Kaiser |first1=J. |year=2009 |title=White House Taps Former Genome Chief Francis Collins as NIH Director |journal=Science |volume=325 |issue=5938 |pages=250–1 |pmid=19608881 |doi=10.1126/science.325_250a}}</ref>

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== Musik ==

 

== Penghargaan dan kehormatan ==

 

 

 

 

Collins merupakan pembicara kunci pada Congress of Future Medical Leaders tahun 2014.

=== Kekristenan ===

 

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Dalam bukunya ''[[The Language of God: A Scientist Presents Evidence for Belief]]'' (tahun 2006), Collins menulis bahwa penemuan-penemuan ilmiah 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".<ref name="Collins2008">{{cite book |last=Collins |first=Francis |title=The Language of God: A Scientist Presents Evidence for Belief |date=September 4, 2008 |publisher=Simon and Schuster |isbn=9781847396150}}</ref> He appeared in December 2006 on [[The Colbert Report]] television show

===Aborsi===

 

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== Pustaka tambahan ==

 

== Pranala luar ==

{{commons category}}

{{Wikiquote|Francis Collins|Francis Collins}}

* {{C-SPAN|Francis Collins}}

* {{TED speaker}}

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[[Category:American geneticists]]

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{{DEFAULTSORT:Collins, Francis}}

[[Kategori:Members of the United States National Academy of Sciences]]

[[Kategori:People from Staunton, Virginia]]