Paola Sebastiani Explained

Paola Sebastiani is a biostatistician and a professor at Boston University working in the field of genetic epidemiology, building prognostic models that can be used for the dissection of complex traits. Her research interests include Bayesian modeling of biomedical data, particularly genetic and genomic data.

Education and career

Sebastiani obtained a first degree in mathematics from the University of Perugia, Italy (1987), an M.Sc. in statistics from University College London (1990), and a Ph.D. in statistics from the Sapienza University of Rome (1992). She came to Boston University in 2003, after previously having been an assistant professor in the Department of Mathematics and Statistics at the University of Massachusetts Amherst.^[1]

Contributions

Her most important contribution is a model based on a Bayesian network that integrates more than 60 single-nucleotide polymorphisms (SNPs) and other biomarkers to compute the risk for stroke in patients with sickle cell anemia. This model was shown to have high sensitivity and specificity and demonstrated, for the first time, how an accurate risk prediction model of a complex genetic trait that is modulated by several interacting genes can be built using Bayesian networks.^[2]

A controversial paper regarding the genetics of aging with which she was associated was retracted from the journal Science in 2011 due to flawed data.^{[3] [4]} The corrected version was published in PLOS ONE,^[5] and several of the genes found associated with exceptional human longevity were replicated in other studies of centenarians.^{[6] [7] [8] [9]}

Publications

She has published several peer-reviewed papers. According to Scopus the most cited ones are:

• Ramoni M.F. . Sebastiani P. . Kohane I.S. . Cluster analysis of gene expression dynamics" (2002) . . 99 . 14. 9121–9126 . 10.1073/pnas.132656399. 12082179 . 123104. 2002 . free .
• Sebastiani P. . Ramoni M.F. . Nolan V. . Baldwin C.T. . Steinberg M.H. . Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia" (2005) . . 37 . 4. 435–440 . 10.1038/ng1533 . 15778708 . 2896308. 2005 .
• Mandl K.D. . Overhage J.M. . Wagner M.M. . Lober W.B. . Sebastiani P. . Mostashari F. . Pavlin J.A. . Gesteland P.H. . Treadwell T. . Koski E. . Hutwagner L. . Buckeridge D.L. . Aller R.D. . Grannis S. . Implementing syndromic surveillance: A practical guide informed by the early experience" (2004) . Journal of the American Medical Informatics Association . 11 . 2. 141–150 . 10.1197/jamia.m1356 . 14633933 . 353021. 2003 .
• Sebastiani P. . Gussoni E. . Kohane I.S. . Ramoni M.F. . Baker H.V. . Statistical challenges in functional genomics" (2003) . . 18 . 1. 33–70 . 10.1214/ss/1056397486. 2003 . free .

Awards and honors

She became a fellow of the American Statistical Association in 2017.^[10]

Notes and References

1. Web site: BU Homepage for Paola Sebastiani . 2009-02-03.
2. Sebastiani P, Ramoni MF, Nolan V, Baldwin CT, Steinberg MH . Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia . . 37 . 4 . 435–40 . April 2005 . 15778708 . 2896308 . 10.1038/ng1533 .
3. News: Scientists Retract Report on Predicting Longevity. 22 July 2011. The New York Times. Wade. Nicholas.
4. News: Science Longevity Paper Rectracted. July 2011. 2013-03-11. https://web.archive.org/web/20130317171636/http://news.sciencemag.org/scienceinsider/2011/07/sciencelongevity-paper-retracted.html. 2013-03-17. dead.
5. Genetic Signatures of Exceptional Longevity in Humans. 10.1371/journal.pone.0029848. 22279548. 3261167. 7. 1. PLOS ONE. e29848. 2012. Sebastiani. Paola. Solovieff. Nadia. Dewan. Andrew T.. Walsh. Kyle M.. Puca. Annibale. Hartley. Stephen W.. Melista. Efthymia. Andersen. Stacy. Dworkis. Daniel A.. Wilk. Jemma B.. Myers. Richard H.. Steinberg. Martin H.. Montano. Monty. Baldwin. Clinton T.. Hoh. Josephine. Perls. Thomas T.. 2012PLoSO...729848S. free.
6. Human longevity and common variations in the LMNA gene: a meta-analysis. 10.1111/j.1474-9726.2012.00808.x. 22340368. 11. 3. Aging Cell. 475–481. 2012. Conneely. Karen N.. Capell. Brian C.. Erdos. Michael R.. Sebastiani. Paola. Solovieff. Nadia. Swift. Amy J.. Baldwin. Clinton T.. Budagov. Temuri. Barzilai. Nir. Atzmon. Gil. Puca. Annibale A.. Perls. Thomas T.. Geesaman. Bard J.. Boehnke. Michael. Collins. Francis S.. 3350595.
7. Genetic Variants in PVRL2-TOMM40-APOE Region Are Associated with Human Longevity in a Han Chinese Population. 10.1371/journal.pone.0099580. 9. 6. PLOS ONE. e99580. 24924924. 4055715. Lu F, Guan H, Gong B, Liu X, Zhu R, Wang Y, Qian J, Zhou T, Lan X, Wang P, Lin Y, Ma S, Lin H, Zhu X, Chen R, Zhu X, Shi Y, Yang Z. 2014. 2014PLoSO...999580L. free.
8. The rs1333049 polymorphism on locus 9p21.3 and extreme longevity in Spanish and Japanese cohorts. Tomàs Pinós. 10.1007/s11357-013-9593-0. 24163049. 36. 2. AGE. 933–943. 4039251. 2014.
9. Meta-analysis of genetic variants associated with human exceptional longevity. 3808698 . 24244950 . 5. 9 . 2013. Aging. 653–61. Sebastiani P, Bae H, Sun FX, Andersen SL, Daw EW, Malovini A, Kojima T, Hirose N, Schupf N, Puca A, Perls TT . 10.18632/aging.100594.
10. Web site: ASA Fellows list. American Statistical Association. 2017-11-02. https://web.archive.org/web/20171201042456/https://www.amstat.org/ASA/Your-Career/Awards/ASA-Fellows-list.aspx. 2017-12-01. dead.