词条 | Pamela Sklar |
释义 |
|name = Pamela Sklar |image = Pamela_Sklar_2015.jpg |citizenship = United States |field = Neuroscience Genomics Psychiatry |birth_date = {{birth date|1959|7|20}} |death_date = {{death date and age|2017|11|20|1959|7|20}} |birth_place = Baltimore, Maryland, U.S. |work_institutions = Icahn School of Medicine at Mount Sinai |alma_mater = St. John's College Johns Hopkins University School of Medicine }}Pamela Sklar (born July 20, 1959 in Baltimore, Maryland - died November 20, 2017 in New York City) was an American psychiatrist and neuroscientist. She was Chair of the Department of Genetics and Genomic Sciences and professor of psychiatry, neuroscience, and genetic and genomic sciences at the Icahn School of Medicine at Mount Sinai.[1] She was also chief of the Division of Psychiatric Genomics at the Icahn School of Medicine at Mount Sinai. Sklar is known for her large-scale gene discovery studies in bipolar disorder and schizophrenia and for making some of the first statistically meaningful gene identifications in both mental illnesses.[2][3] EducationSklar completed her bachelor's degree in classics and philosophy at St. John’s College in 1981. She went on to complete her medical degree and then her PhD in neuroscience, both at Johns Hopkins School of Medicine. She carried out her residency in psychiatry at Columbia University Medical School, where she also carried out postdoctoral work in the laboratory of Richard Axel. ResearchSklar’s research and clinical work focused on characterizing the biology underlying mental illnesses, in particular schizophrenia and bipolar disorder. Her studies of DNA variation have identified both common and rare genetic changes associated with these disorders.[4][5] While working at the Broad Institute, Sklar co-founded the Stanley Center for Psychiatric Research and served as its genetics director. By studying thousands of affected individuals and comparing them with thousands of healthy people, she was the first to associate recurrent large deletions of DNA with the onset of schizophrenia and also found the first broadly reproducible genetic variants in schizophrenia as well as bipolar disorder using genome-wide association studies.[6][7][8][9] Sklar and her colleagues discovered a molecular basis for polygenicity in schizophrenia among both rare and common DNA alterations[10][11] and that schizophrenia and bipolar disorder are genetically linked through DNA variants that contribute to both illnesses.[12][13] In 2011, Sklar joined the Icahn School of Medicine at Mount Sinai and became founding chief of the Division of Psychiatric Genomics there.[14] The division’s scope includes stem cell biology, neurocognition, statistical genetics, and imaging approaches to elucidate the biological variation causing mental illness. While at Mount Sinai, Sklar published papers demonstrating that schizophrenia is linked to many ultra-rare genetic variants.[15][16] Sklar served as a principal investigator for the Psychiatric Genomics Consortium, the largest international collaboration in the psychiatric community.[17] She helped lead the consortium’s working group on bipolar disorder. She also co-founded the International Schizophrenia Consortium. After she died, Icahn School of Medicine renamed their Division of Psychiatric Genomics in her honor.[18] Sklar edited the textbook Neurobiology of Mental Illness,[19] and published more than 140 peer-reviewed scientific papers. She was elected to the National Academy of Medicine in 2013.[20] Selected publications
Obituaries
References1. ^Dr. Pamela Sklar, Psychiatrist in New York, NY | US News Doctors {{webarchive|url=https://web.archive.org/web/20140714185531/http://health.usnews.com/doctors/pamela-sklar-768411 |date=2014-07-14 }} {{Authority control}}{{DEFAULTSORT:Sklar, Pamela}}2. ^{{cite web|url=http://www.bioworld.com/content/studies-show-no-smoking-guns-or-lots-them-schizophrenia-0|title=Studies show no smoking guns, or lots of them, in schizophrenia|website=BioWorld}} 3. ^{{cite web|url=https://www.nytimes.com/2008/07/31/health/research/31gene.html|title=Gene-Hunters Find Hope and Hurdles in Schizophrenia Studies|first=Nicholas|last=Wade|date=31 July 2008|publisher=|via=NYTimes.com}} 4. ^{{cite web|url=http://bbrfoundation.org/discoveries/genome-wide-studies-identify-11-new-genetic-links-to-schizophrenia-and-bipolar-disorder|title=Genome-wide Studies Identify 11 New Genetic Links to Schizophrenia and Bipolar Disorder - Brain & Behavior Research Foundation (Formerly NARSAD)|website=bbrfoundation.org}} 5. ^{{cite web|url=https://www.nytimes.com/2008/08/15/science/15visual.html|title=Gene Hunt Hints at Cause of Bipolar Disorder|first=Nicholas|last=Wade|date=18 August 2008|publisher=|via=NYTimes.com}} 6. ^1 {{cite journal|last1=Stone|first1=Jennifer L.|last2=O’Donovan|first2=Michael C.|last3=Gurling|first3=Hugh|last4=Kirov|first4=George K.|last5=Blackwood|first5=Douglas H. R.|last6=Corvin|first6=Aiden|last7=Craddock|first7=Nick J.|last8=Gill|first8=Michael|last9=Hultman|first9=Christina M.|date=|title=Rare chromosomal deletions and duplications increase risk of schizophrenia|url=http://www.nature.com/nature/journal/v455/n7210/full/nature07239.html|journal=Nature|volume=455|issue=7210|pages=237–241|doi=10.1038/nature07239|via=|first10=Paul|last10=Lichtenstein|first11=Andrew|last11=McQuillin|first12=Carlos N.|last12=Pato|first13=Douglas M.|last13=Ruderfer|first14=Michael J.|last14=Owen|first15=David St|last15=Clair|first16=Patrick F.|last16=Sullivan|first17=Pamela|last17=Sklar|first18=Shaun M. Purcell|last18=(Leader)|first19=Douglas M.|last19=Ruderfer|first20=Joshua|last20=Korn|first21=George K.|last21=Kirov|first22=Stuart|last22=Macgregor|first23=Andrew|last23=McQuillin|first24=Derek W.|last24=Morris|first25=Colm T.|last25=O’Dushlaine|first26=Mark J.|last26=Daly|first27=Peter M.|last27=Visscher|first28=Peter A.|last28=Holmans|first29=Michael C.|last29=O’Donovan|first30=Patrick F.|last30=Sullivan|first31=Pamela|last31=Sklar|first32=Shaun M. Purcell|last32=(Leader)|first33=Hugh|last33=Gurling|first34=Aiden|last34=Corvin|first35=Douglas H. R.|last35=Blackwood|first36=Nick J.|last36=Craddock|first37=Michael|last37=Gill|first38=Christina M.|last38=Hultman|first39=George K.|last39=Kirov|first40=Paul|last40=Lichtenstein|first41=Andrew|last41=McQuillin|first42=Michael C.|last42=O’Donovan|first43=Michael J.|last43=Owen|first44=Carlos N.|last44=Pato|first45=Shaun M.|last45=Purcell|first46=Edward M.|last46=Scolnick|first47=David St|last47=Clair|first48=Patrick F.|last48=Sullivan|first49=Pamela Sklar|last49=(Leader)|first50=Michael C.|last50=O’Donovan|first51=George K.|last51=Kirov|first52=Nick J.|last52=Craddock|first53=Peter A.|last53=Holmans|first54=Nigel M.|last54=Williams|first55=Lucy|last55=Georgieva|first56=Ivan|last56=Nikolov|first57=N.|last57=Norton|first58=H.|last58=Williams|first59=Draga|last59=Toncheva|first60=Vihra|last60=Milanova|first61=Michael J.|last61=Owen|first62=Christina M.|last62=Hultman|first63=Paul|last63=Lichtenstein|first64=Emma F.|last64=Thelander|first65=Patrick|last65=Sullivan|first66=Derek W.|last66=Morris|first67=Colm T.|last67=O’Dushlaine|first68=Elaine|last68=Kenny|first69=John L.|last69=Waddington|first70=Michael|last70=Gill|first71=Aiden|last71=Corvin|first72=Andrew|last72=McQuillin|first73=Khalid|last73=Choudhury|first74=Susmita|last74=Datta|first75=Jonathan|last75=Pimm|first76=Srinivasa|last76=Thirumalai|first77=Vinay|last77=Puri|first78=Robert|last78=Krasucki|first79=Jacob|last79=Lawrence|first80=Digby|last80=Quested|first81=Nicholas|last81=Bass|first82=David|last82=Curtis|first83=Hugh|last83=Gurling|first84=Caroline|last84=Crombie|first85=Gillian|last85=Fraser|first86=Soh Leh|last86=Kwan|first87=Nicholas|last87=Walker|first88=David St|last88=Clair|first89=Douglas H. R.|last89=Blackwood|first90=Walter J.|last90=Muir|first91=Kevin A.|last91=McGhee|first92=Ben|last92=Pickard|first93=Pat|last93=Malloy|first94=Alan W.|last94=Maclean|first95=Margaret Van|last95=Beck|first96=Peter M.|last96=Visscher|first97=Stuart|last97=Macgregor|first98=Michele T.|last98=Pato|first99=Helena|last99=Medeiros|first100=Frank|last100=Middleton|first101=Celia|last101=Carvalho|first102=Christopher|last102=Morley|first103=Ayman|last103=Fanous|first104=David|last104=Conti|first105=James A.|last105=Knowles|first106=Carlos Paz|last106=Ferreira|first107=Antonio|last107=Macedo|first108=M. Helena|last108=Azevedo|first109=Carlos N.|last109=Pato|first110=Douglas M.|last110=Ruderfer|first111=Joshua|last111=Korn|first112=Steve A.|last112=McCarroll|first113=Mark|last113=Daly|first114=Shaun M.|last114=Purcell|first115=Pamela|last115=Sklar|first116=Shaun M.|last116=Purcell|first117=Kimberly|last117=Chambert|first118=Douglas M.|last118=Ruderfer|first119=Joshua|last119=Korn|first120=Steve A.|last120=McCarroll|first121=Casey|last121=Gates|first122=Stacey B.|last122=Gabriel|first123=Scott|last123=Mahon|first124=Kristen|last124=Ardlie|first125=Mark J.|last125=Daly|first126=Edward M.|last126=Scolnick|first127=Pamela|last127=Sklar|website=|pmc=3912847}} 7. ^1 {{cite journal|last=Group|first=Psychiatric GWAS Consortium Bipolar Disorder Working|date=|title=Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4|url=http://www.nature.com/ng/journal/v43/n10/full/ng.943.html|journal=Nature Genetics|volume=43|issue=10|pages=977–983|doi=10.1038/ng.943|via=|website=}} 8. ^1 {{cite journal|last1=Purcell|first1=Shaun M.|last2=Wray|first2=Naomi R.|last3=Stone|first3=Jennifer L.|last4=Visscher|first4=Peter M.|last5=O'Donovan|first5=Michael C.|last6=Sullivan|first6=Patrick F.|last7=Sklar|first7=Pamela|last8=(Leader)|first8=Shaun M. Purcell|last9=Stone|first9=Jennifer L.|date=|title=Common polygenic variation contributes to risk of schizophrenia and bipolar disorder|url=http://www.nature.com/nature/journal/v460/n7256/full/nature08185.html|journal=Nature|volume=460|issue=7256|pages=|doi=10.1038/nature08185|via=|first10=Patrick F.|last10=Sullivan|first11=Douglas M.|last11=Ruderfer|first12=Andrew|last12=McQuillin|first13=Derek W.|last13=Morris|first14=Colm T.|last14=O’Dushlaine|first15=Aiden|last15=Corvin|first16=Peter A.|last16=Holmans|first17=Michael C.|last17=O’Donovan|first18=Pamela|last18=Sklar|first19=Naomi R.|last19=Wray|first20=Stuart|last20=Macgregor|first21=Pamela|last21=Sklar|first22=Patrick F.|last22=Sullivan|first23=Michael C.|last23=O’Donovan|first24=Peter M.|last24=Visscher|first25=Hugh|last25=Gurling|first26=Douglas H. R.|last26=Blackwood|first27=Aiden|last27=Corvin|first28=Nick J.|last28=Craddock|first29=Michael|last29=Gill|first30=Christina M.|last30=Hultman|first31=George K.|last31=Kirov|first32=Paul|last32=Lichtenstein|first33=Andrew|last33=McQuillin|first34=Walter J.|last34=Muir|first35=Michael C.|last35=O'Donovan|first36=Michael J.|last36=Owen|first37=Carlos N.|last37=Pato|first38=Edward M.|last38=Scolnick|first39=David St|last39=Clair|first40=Jennifer L.|last40=Stone|first41=Patrick F.|last41=Sullivan|first42=Pamela Sklar|last42=(Leader)|first43=Michael C.|last43=O'Donovan|first44=George K.|last44=Kirov|first45=Nick J.|last45=Craddock|first46=Peter A.|last46=Holmans|first47=Nigel M.|last47=Williams|first48=Lyudmila|last48=Georgieva|first49=Ivan|last49=Nikolov|first50=N.|last50=Norton|first51=H.|last51=Williams|first52=Draga|last52=Toncheva|first53=Vihra|last53=Milanova|first54=Michael J.|last54=Owen|first55=Christina M.|last55=Hultman|first56=Paul|last56=Lichtenstein|first57=Emma F.|last57=Thelander|first58=Patrick|last58=Sullivan|first59=Derek W.|last59=Morris|first60=Colm T.|last60=O'Dushlaine|first61=Elaine|last61=Kenny|first62=Emma M.|last62=Quinn|first63=Michael|last63=Gill|first64=Aiden|last64=Corvin|first65=Andrew|last65=McQuillin|first66=Khalid|last66=Choudhury|first67=Susmita|last67=Datta|first68=Jonathan|last68=Pimm|first69=Srinivasa|last69=Thirumalai|first70=Vinay|last70=Puri|first71=Robert|last71=Krasucki|first72=Jacob|last72=Lawrence|first73=Digby|last73=Quested|first74=Nicholas|last74=Bass|first75=Hugh|last75=Gurling|first76=Caroline|last76=Crombie|first77=Gillian|last77=Fraser|first78=Soh Leh|last78=Kuan|first79=Nicholas|last79=Walker|first80=David St|last80=Clair|first81=Douglas H. R.|last81=Blackwood|first82=Walter J.|last82=Muir|first83=Kevin A.|last83=McGhee|first84=Ben|last84=Pickard|first85=Pat|last85=Malloy|first86=Alan W.|last86=Maclean|first87=Margaret Van|last87=Beck|first88=Naomi R.|last88=Wray|first89=Stuart|last89=Macgregor|first90=Peter M.|last90=Visscher|first91=Michele T.|last91=Pato|first92=Helena|last92=Medeiros|first93=Frank|last93=Middleton|first94=Celia|last94=Carvalho|first95=Christopher|last95=Morley|first96=Ayman|last96=Fanous|first97=David|last97=Conti|first98=James A.|last98=Knowles|first99=Carlos Paz|last99=Ferreira|first100=Antonio|last100=Macedo|first101=M. Helena|last101=Azevedo|first102=Carlos N.|last102=Pato|first103=Jennifer L.|last103=Stone|first104=Douglas M.|last104=Ruderfer|first105=Andrew N.|last105=Kirby|first106=Manuel A. R.|last106=Ferreira|first107=Mark J.|last107=Daly|first108=Pamela|last108=Sklar|first109=Jennifer L.|last109=Stone|first110=Kimberly|last110=Chambert|first111=Douglas M.|last111=Ruderfer|first112=Finny|last112=Kuruvilla|first113=Stacey B.|last113=Gabriel|first114=Kristin|last114=Ardlie|first115=Jennifer L.|last115=Moran|first116=Mark J.|last116=Daly|first117=Edward M.|last117=Scolnick|first118=Pamela|last118=Sklar|website=|pmc=3912837}} 9. ^1 {{cite journal|last1=Ferreira|first1=Manuel A R|last2=Consortium|first2=Wellcome Trust Case Control|last3=O'Donovan|first3=Michael C|last4=Meng|first4=Yan A|last5=Jones|first5=Ian R|last6=Ruderfer|first6=Douglas M|last7=Jones|first7=Lisa|last8=Fan|first8=Jinbo|last9=Kirov|first9=George|date=|title=Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder|url=http://www.nature.com/ng/journal/v40/n9/full/ng.209.html|journal=Nature Genetics|volume=40|issue=9|pages=1056–1058|doi=10.1038/ng.209|via=|first10=Roy H|last10=Perlis|first11=Elaine K|last11=Green|first12=Jordan W|last12=Smoller|first13=Detelina|last13=Grozeva|first14=Jennifer|last14=Stone|first15=Ivan|last15=Nikolov|first16=Kimberly|last16=Chambert|first17=Marian L|last17=Hamshere|first18=Vishwajit L|last18=Nimgaonkar|first19=Valentina|last19=Moskvina|first20=Michael E|last20=Thase|first21=Sian|last21=Caesar|first22=Gary S|last22=Sachs|first23=Jennifer|last23=Franklin|first24=Katherine|last24=Gordon-Smith|first25=Kristin G|last25=Ardlie|first26=Stacey B|last26=Gabriel|first27=Christine|last27=Fraser|first28=Brendan|last28=Blumenstiel|first29=Matthew|last29=Defelice|first30=Gerome|last30=Breen|first31=Michael|last31=Gill|first32=Derek W|last32=Morris|first33=Amanda|last33=Elkin|first34=Walter J|last34=Muir|first35=Kevin A|last35=McGhee|first36=Richard|last36=Williamson|first37=Donald J|last37=MacIntyre|first38=Alan W|last38=MacLean|first39=David St|last39=Clair|first40=Michelle|last40=Robinson|first41=Margaret Van|last41=Beck|first42=Ana C P|last42=Pereira|first43=Radhika|last43=Kandaswamy|first44=Andrew|last44=McQuillin|first45=David A|last45=Collier|first46=Nicholas J|last46=Bass|first47=Allan H|last47=Young|first48=Jacob|last48=Lawrence|first49=I Nicol|last49=Ferrier|first50=Adebayo|last50=Anjorin|first51=Anne|last51=Farmer|first52=David|last52=Curtis|first53=Edward M|last53=Scolnick|first54=Peter|last54=McGuffin|first55=Mark J|last55=Daly|first56=Aiden P|last56=Corvin|first57=Peter A|last57=Holmans|first58=Douglas H|last58=Blackwood|first59=Hugh M|last59=Gurling|first60=Michael J|last60=Owen|first61=Shaun M|last61=Purcell|first62=Pamela|last62=Sklar|first63=Nick|last63=Craddock|website=}} 10. ^{{cite web|url=http://www.bio-itworld.com/2014/1/22/maddening-genetics-schizophrenia.html|title=Bio-IT World|website=www.bio-itworld.com}} 11. ^1 {{cite journal|last1=Purcell|first1=Shaun M.|last2=Moran|first2=Jennifer L.|last3=Fromer|first3=Menachem|last4=Ruderfer|first4=Douglas|last5=Solovieff|first5=Nadia|last6=Roussos|first6=Panos|last7=O’Dushlaine|first7=Colm|last8=Chambert|first8=Kimberly|last9=Bergen|first9=Sarah E.|date=|title=A polygenic burden of rare disruptive mutations in schizophrenia|url=http://www.nature.com/nature/journal/v506/n7487/full/nature12975.html|journal=Nature|volume=506|issue=7487|pages=185–190|doi=10.1038/nature12975|via=|first10=Anna|last10=Kähler|first11=Laramie|last11=Duncan|first12=Eli|last12=Stahl|first13=Giulio|last13=Genovese|first14=Esperanza|last14=Fernández|first15=Mark O.|last15=Collins|first16=Noboru H.|last16=Komiyama|first17=Jyoti S.|last17=Choudhary|first18=Patrik K. E.|last18=Magnusson|first19=Eric|last19=Banks|first20=Khalid|last20=Shakir|first21=Kiran|last21=Garimella|first22=Tim|last22=Fennell|first23=Mark|last23=DePristo|first24=Seth G. N.|last24=Grant|first25=Stephen J.|last25=Haggarty|first26=Stacey|last26=Gabriel|first27=Edward M.|last27=Scolnick|first28=Eric S.|last28=Lander|first29=Christina M.|last29=Hultman|first30=Patrick F.|last30=Sullivan|first31=Steven A.|last31=McCarroll|first32=Pamela|last32=Sklar|website=}} 12. ^{{cite web|url=http://consumer.healthday.com/mental-health-information-25/bipolar-affective-disorder-news-60/genetic-links-seen-between-bipolar-illness-and-schizophrenia-657086.html|title=Genetic Links Seen Between Bipolar Illness and Schizophrenia|website=Consumer HealthDay}} 13. ^{{cite web|url=https://www.theglobeandmail.com/life/health-and-fitness/health/conditions/schizophrenia-and-bipolar-disorder-can-be-traced-to-the-same-genetic-variants/article1322074/|title=Schizophrenia and bipolar disorder can be traced to the same genetic variants|publisher=|via=The Globe and Mail}} 14. ^{{cite web|url=http://icahn.mssm.edu/departments-and-institutes/psychiatry/news/mount-sinai-welcomes-pamela-sklar-md-phd|title=Department of Psychiatry - Icahn School of Medicine|website=Icahn School of Medicine at Mount Sinai}} 15. ^{{cite web|url=http://www.the-scientist.com/?articles.view/articleNo/38978/title/Schizophrenia-s-Intricacies/|title=Schizophrenia’s Intricacies|website=The Scientist}} 16. ^1 De novo mutations in schizophrenia implicate synaptic networks - Nature 17. ^[https://pgc.unc.edu/ What is the PGC? — Psychiatric Genomics Consortium] {{webarchive|url=https://web.archive.org/web/20100614130119/https://pgc.unc.edu/ |date=2010-06-14 }} 18. ^{{Cite web |url=http://inside.mountsinai.org/blog/celebrating-trailblazer-pamela-sklar-md-phd/ |title=Celebrating Trailblazer Pamela Sklar, MD, PhD |date=2018-07-16 |website=Inside Mount Sinai |language=en-US |access-date=2019-01-15}} 19. ^{{cite web|url=http://global.oup.com/academic/product/neurobiology-of-mental-illness-9780199934959;jsessionid=F6E59952280A16EFA6EC8D8B147BE87F?cc=ca&lang=en&|title=Neurobiology of Mental Illness - Dennis S. Charney; Joseph D. Buxbaum; Pamela Sklar; Eric J. Nestler - Oxford University Press|website=oup.com}} 20. ^{{cite web|url=http://www.prweb.com/releases/2013/10/prweb11267143.htm|title=Two Mount Sinai Physicians Elected To The Institute Of Medicine|website=prweb.com}} 10 : 1959 births|2017 deaths|Members of the National Academy of Medicine|American psychiatrists|American neuroscientists|Icahn School of Medicine at Mount Sinai faculty|Johns Hopkins School of Medicine alumni|St. John's College (Annapolis/Santa Fe) alumni|Women neuroscientists|American women psychiatrists |
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