Research Associate
Email: sam71@medschl.cam.ac.uk
Background
Dr Sowmiya Moorthie is a research associate with the East of England NIHR Applied Research Collaboration. She has a background in biological sciences, and epidemiology. She has extensive experience in policy development for science and public health.
She also holds a role as a senior policy analyst at PHG Foundation – a health policy think tank.
Research Interests
For the NIHR ARC she is working as part of the Population Evidence and Data Science theme contributing to the development, conduct, analysis and implementation of applied population health and care research with a focus on the use of data to improve health.
Selected Publications
Personalized early detection and prevention of breast cancer: ENVISION consensus statement.
Pashayan N, Antoniou AC, Ivanus U, Esserman LJ, Easton DF, French D, Sroczynski G, Hall P, Cuzick J, Evans DG, Simard J, Garcia-Closas M, Schmutzler R, Wegwarth O, Pharoah P, Moorthie S, De Montgolfier S, Baron C, Herceg Z, Turnbull C, Balleyguier C, Rossi PG, Wesseling J, Ritchie D, Tischkowitz M, Broeders M, Reisel D, Metspalu A, Callender T, de Koning H, Devilee P, Delaloge S, Schmidt MK, Widschwendter M.
Nat Rev Clin Oncol. 2020 Jun 18. doi: 10.1038/s41571-020-0388-9.
Understanding polygenic models, their development and the potential application of polygenic scores in healthcare.
Babb de Villiers C, Kroese M, Moorthie S.
J Med Genet. 2020 May 6:jmedgenet-2019-106763. doi: 10.1136/jmedgenet-2019-106763. Online ahead of print.
Congenital disorders: epidemiological methods for answering calls for action.
Modell B, Darlison MW, Malherbe H, Moorthie S, Blencowe H, Mahaini R, El-Adawy M.
J Community Genet. 2018 Oct;9(4):335-340. doi: 10.1007/s12687-018-0390-4. Epub 2018 Sep 19.
Estimating the birth prevalence and pregnancy outcomes of congenital malformations worldwide.
Moorthie S, Blencowe H, Darlison MW, Lawn J, Morris JK, Modell B; Congenital Disorders Expert Group, Bittles AH, Blencowe H, Christianson A, Cousens S, Darlison MW, Gibbons S, Hamamy H, Khoshnood B, Howson CP, Lawn J, Mastroiacovo P, Modell B, Moorthie S, Morris JK, Mossey PA, Neville AJ, Petrou M, Povey S, Rankin J, Schuler-Faccini L, Wren C, Yunnis KA.
J Community Genet. 2018 Oct;9(4):387-396. doi: 10.1007/s12687-018-0384-2. Epub 2018 Sep 14.
Rare single gene disorders: estimating baseline prevalence and outcomes worldwide.
Blencowe H, Moorthie S, Petrou M, Hamamy H, Povey S, Bittles A, Gibbons S, Darlison M, Modell B; Congenital Disorders Expert Group.
J Community Genet. 2018 Oct;9(4):397-406. doi: 10.1007/s12687-018-0376-2.
Methods to estimate access to care and the effect of interventions on the outcomes of congenital disorders.
Blencowe H, Moorthie S, Darlison MW, Gibbons S, Modell B; Congenital Disorders Expert Group.
J Community Genet. 2018 Oct;9(4):363-376. doi: 10.1007/s12687-018-0359-3.
Estimates of global and regional prevalence of neural tube defects for 2015: a systematic analysis.
Blencowe H, Kancherla V, Moorthie S, Darlison MW, Modell B.
Ann N Y Acad Sci. 2018 Feb;1414(1):31-46. doi: 10.1111/nyas.13548.
An overview of concepts and approaches used in estimating the burden of congenital disorders globally.
Moorthie S, Blencowe H, W Darlison M, Lawn JE, Mastroiacovo P, Morris JK, Modell B; Congenital Disorders Expert Group.
J Community Genet. 2018 Oct;9(4):347-362. doi: 10.1007/s12687-017-0335-3.
Chromosomal disorders: estimating baseline birth prevalence and pregnancy outcomes worldwide.
Moorthie S, Blencowe H, Darlison MW, Gibbons S, Lawn JE, Mastroiacovo P, Morris JK, Modell B; Congenital Disorders Expert Group.
J Community Genet. 2018 Oct;9(4):377-386. doi: 10.1007/s12687-017-0336-2. Epub 2017 Sep 26.
Systematic Review and Meta-Analysis of the Birth Prevalence of Orofacial Clefts in Low- and Middle-Income Countries.
Kadir A, Mossey PA, Blencowe H, Moorthie S, Lawn JE, Mastroiacovo P, Modell B.
Cleft Palate Craniofac J. 2017 Sep;54(5):571-581. doi: 10.1597/15-221. Epub 2016 Jul 19.