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Jabs joined the Johns Hopkins University faculty in 1984 and became a professor of pediatric genetics and Director of the Center for Craniofacial Development and Disorders.<ref>{{cite web|url=http://www.hopkinsmedicine.org/geneticmedicine/People/Faculty/jabs.html |title=Jabs, Ethylin Wang, M.D |publisher=Hopkinsmedicine.org |date= |accessdate=2013-12-03}}</ref>
Jabs joined the Johns Hopkins University faculty in 1984 and became a professor of pediatric genetics and Director of the Center for Craniofacial Development and Disorders.<ref>{{cite web|url=http://www.hopkinsmedicine.org/geneticmedicine/People/Faculty/jabs.html |title=Jabs, Ethylin Wang, M.D |publisher=Hopkinsmedicine.org |date= |accessdate=2013-12-03}}</ref>


Her laboratory was responsible for the identification of the first human mutation in a [[homeobox]]-containing gene, an important regulatory gene in development.<ref>{{cite web|url=http://www.cell.com/abstract/0092-8674(93)90379-5 |title=A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis |publisher=Cell |date= |accessdate=2013-12-03}}</ref> Jabs went on to identify mutations in key genes responsible for craniofacial disorders, especially [[craniosynostosis]].<ref>{{cite web|url=http://www.nature.com/ng/journal/v8/n3/abs/ng1194-275.html |title=Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2 - Nature Genetics |publisher=Nature.com |date=1994-11-01 |accessdate=2013-12-03}}</ref><ref>{{cite web|url=http://www.nature.com/ng/journal/v15/n1/abs/ng0197-36.html |title=Mutations in TWIST, a basic helix−loop−helix transcription factor, in Saethre-Chotzen syndrome - Nature Genetics |publisher=Nature.com |date=1997-01-01 |accessdate=2013-12-03}}</ref><ref>[http://www.nature.com/ng/journal/v44/n12/full/ng.2463.html] {{dead link|date=December 2013}}</ref><ref>{{cite news|author=GEORGE JOHNSONPublished: February 13, 1996 |url=http://www.nytimes.com/1996/02/13/science/same-gene-may-shape-face-heart-and-hands.html |title=Same Gene May Shape Face, Heart and Hands - New York Times |publisher=Nytimes.com |date=1996-02-13 |accessdate=2013-12-03}}</ref> She discovered that similar mutations in the same gene, fibroblast growth factor receptor 2 or [[FGFR2]], cause both [[Jackson-Weiss syndrome]] and [[Crouzon syndrome]].<ref>{{cite web|url=http://www.the-scientist.com/?articles.view/articleNo/18211/title/Molecular-Genetics/ |accessdate=October 28, 2013 |deadurl=yes |archiveurl=https://web.archive.org/20131216123900/http://www.the-scientist.com/?articles.view/articleNo/18211/title/Molecular-Genetics/ |archivedate=December 16, 2013 }}</ref>
Her laboratory was responsible for the identification of the first human mutation in a [[homeobox]]-containing gene, an important regulatory gene in development.<ref>{{cite web|url=http://www.cell.com/abstract/0092-8674(93)90379-5 |title=A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis |publisher=Cell |date= |accessdate=2013-12-03}}</ref> Jabs went on to identify mutations in key genes responsible for craniofacial disorders, especially [[craniosynostosis]].<ref>{{cite web|url=http://www.nature.com/ng/journal/v8/n3/abs/ng1194-275.html |title=Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2 - Nature Genetics |publisher=Nature.com |date=1994-11-01 |accessdate=2013-12-03}}</ref><ref>{{cite web|url=http://www.nature.com/ng/journal/v15/n1/abs/ng0197-36.html |title=Mutations in TWIST, a basic helix−loop−helix transcription factor, in Saethre-Chotzen syndrome - Nature Genetics |publisher=Nature.com |date=1997-01-01 |accessdate=2013-12-03}}</ref><ref>[http://www.nature.com/ng/journal/v44/n12/full/ng.2463.html] {{dead link|date=December 2013}}</ref><ref>{{cite news|author=GEORGE JOHNSONPublished: February 13, 1996 |url=http://www.nytimes.com/1996/02/13/science/same-gene-may-shape-face-heart-and-hands.html |title=Same Gene May Shape Face, Heart and Hands - New York Times |publisher=Nytimes.com |date=1996-02-13 |accessdate=2013-12-03}}</ref> She discovered that similar mutations in the same gene, fibroblast growth factor receptor 2 or [[FGFR2]], cause both [[Jackson-Weiss syndrome]] and [[Crouzon syndrome]].<ref>{{cite web|url=http://www.the-scientist.com/?articles.view/articleNo/18211/title/Molecular-Genetics/ |accessdate=October 28, 2013 |deadurl=yes |archiveurl=https://web.archive.org/20131216123900/http://www.the-scientist.com/?articles.view/articleNo/18211/title/Molecular-Genetics/ |archivedate=December 16, 2013 | title = Molecular Genetics}}</ref>


For some of these conditions, Jabs demonstrated the association of advanced paternal age at conception. She has studied the increased frequency of spontaneous mutations arising in sperm with aging.<ref>{{cite web|url=http://sageke.sciencemag.org/cgi/content/abstract/2004/3/re1 |title=Dear Old Dad - Glaser and Jabs 2004 (3): 1 - Science's SAGE KE |doi=10.1126/sageke.2004.3.re1 |publisher=Sageke.sciencemag.org |date=2004-01-21 |accessdate=2013-12-03}}</ref><ref>{{cite web|url=http://www.sciencedaily.com/releases/2003/08/030820072738.htm |title=Disease-causing Genetic Mutations In Sperm Increase With Men's Age |publisher=Sciencedaily.com |date=2003-08-20 |accessdate=2013-12-03}}</ref>
For some of these conditions, Jabs demonstrated the association of advanced paternal age at conception. She has studied the increased frequency of spontaneous mutations arising in sperm with aging.<ref>{{cite web|url=http://sageke.sciencemag.org/cgi/content/abstract/2004/3/re1 |title=Dear Old Dad - Glaser and Jabs 2004 (3): 1 - Science's SAGE KE |doi=10.1126/sageke.2004.3.re1 |publisher=Sageke.sciencemag.org |date=2004-01-21 |accessdate=2013-12-03}}</ref><ref>{{cite web|url=http://www.sciencedaily.com/releases/2003/08/030820072738.htm |title=Disease-causing Genetic Mutations In Sperm Increase With Men's Age |publisher=Sciencedaily.com |date=2003-08-20 |accessdate=2013-12-03}}</ref>

Revision as of 19:03, 16 May 2016

Ethylin Wang Jabs
CitizenshipAmerican
Alma materJohns Hopkins University
Scientific career
Fieldsmedical genetics, craniofacial biology
InstitutionsIcahn School of Medicine at Mount Sinai

Ethylin Wang Jabs is a Chinese-American physician-scientist with expertise in medical genetics, pediatrics, and craniofacial biology. She is currently vice chair of the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai Medical Center. Jabs is also a professor in the departments of developmental and regenerative biology and pediatrics at Mount Sinai and an adjunct professor in pediatrics, medicine, and surgery at the Johns Hopkins School of Medicine. Her research and clinical practice have focused on development genetics and patients with birth defects.

Education

Jabs graduated in 1974 as a member of the first undergraduate class that admitted women at Johns Hopkins University. She received her medical degree and pediatric and medical genetics training at Johns Hopkins Hospital.

Research highlights

Jabs joined the Johns Hopkins University faculty in 1984 and became a professor of pediatric genetics and Director of the Center for Craniofacial Development and Disorders.[1]

Her laboratory was responsible for the identification of the first human mutation in a homeobox-containing gene, an important regulatory gene in development.[2] Jabs went on to identify mutations in key genes responsible for craniofacial disorders, especially craniosynostosis.[3][4][5][6] She discovered that similar mutations in the same gene, fibroblast growth factor receptor 2 or FGFR2, cause both Jackson-Weiss syndrome and Crouzon syndrome.[7]

For some of these conditions, Jabs demonstrated the association of advanced paternal age at conception. She has studied the increased frequency of spontaneous mutations arising in sperm with aging.[8][9] Jabs started a database of clinical and genetic data for people with craniofacial disorders including those with Möbius syndrome, a rare neurological disorder, to help identify the genetic root of the condition.[10] Jabs joined the Mount Sinai medical school in 2007.[11] She conducts collaborative genetic research on rare disorders and animal model systems to investigate the molecular mechanism and potential therapeutic strategies for these conditions.[12] She is an active clinician seeing patients with birth defects.

During her time at Johns Hopkins, she directed an international training program in collaboration with Peking Union Medical College and Peking University. At Mount Sinai, she runs a training program for predoctoral students on the integration of bioinformatics, statistics, and developmental biology.

Jabs is an advisor to several parent support groups, including Smile Train.[13] She has authored more than 250 peer-reviewed publications, chapters, and reviews.

References

  1. ^ "Jabs, Ethylin Wang, M.D". Hopkinsmedicine.org. Retrieved 2013-12-03.
  2. ^ "A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis". Cell. Retrieved 2013-12-03.
  3. ^ "Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2 - Nature Genetics". Nature.com. 1994-11-01. Retrieved 2013-12-03.
  4. ^ "Mutations in TWIST, a basic helix−loop−helix transcription factor, in Saethre-Chotzen syndrome - Nature Genetics". Nature.com. 1997-01-01. Retrieved 2013-12-03.
  5. ^ [1] [dead link]
  6. ^ GEORGE JOHNSONPublished: February 13, 1996 (1996-02-13). "Same Gene May Shape Face, Heart and Hands - New York Times". Nytimes.com. Retrieved 2013-12-03.{{cite news}}: CS1 maint: numeric names: authors list (link)
  7. ^ "Molecular Genetics". Archived from the original on December 16, 2013. Retrieved October 28, 2013. {{cite web}}: Unknown parameter |deadurl= ignored (|url-status= suggested) (help)
  8. ^ "Dear Old Dad - Glaser and Jabs 2004 (3): 1 - Science's SAGE KE". Sageke.sciencemag.org. 2004-01-21. doi:10.1126/sageke.2004.3.re1. Retrieved 2013-12-03.
  9. ^ "Disease-causing Genetic Mutations In Sperm Increase With Men's Age". Sciencedaily.com. 2003-08-20. Retrieved 2013-12-03.
  10. ^ "Newsfocus : The Mystery of the Missing Smile" (PDF). Hopkinsmedicine.org. Retrieved 2013-12-06.
  11. ^ "Ethylin Wang Jabs - Icahn School of Medicine at Mount Sinai". Icahn.mssm.edu. 2007-11-01. Retrieved 2013-12-03.
  12. ^ "p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice". JCI. Retrieved 2013-12-03.
  13. ^ "Dome: A publication for the Johns Hopkins Medicine family". Hopkinsmedicine.org. Retrieved 2013-12-03.

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