Sowmiya uses her background in science and epidemiology to provide research, analysis and appraisal skills to a wide range of PHG Foundation projects, including contributions to work on personalised prevention, whole genome sequencing, congenital disorders, newborn screening and prenatal diagnosis.
Sowmiya currently leads the Foundation’s work as part of B-CAST an EU Horizon 2020 project, carrying out research and analysis to examine the capacity development for personalised breast cancer prevention. She is also part of an international Congenital Disorders Expert group, aiming to make available epidemiological data on the burden of disease due to congenital disorders.
Bonham J, Burton H, Cameron L, Moorthie S, Sagoo G. Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases Journal of Inherited Metabolic Disease. 2014 Nov;37(6):889-898
Alberg C, Burton H, Chowdhury S, de Rocha Azevedo L, Moorthie S, Sagoo G, Sanseverino M, Schuler-Faccini L. Health needs assessment for congenital anomalies in middle-income countries: Examining the case for neural tube defects in Brazil J Community Genet. 2013 Aug 30. [Epub ahead of print]
Alberg C, Burton H, Chowdhury S, Darlison M, Grollman C, Hall A, Modell B, Moorthie S, Nacul L, Sagoo G, Stewart A. A Toolkit to assess health needs for congenital disorders in low- and middle-income countries: an instrument for public health action Journal of Public Health. doi: 10.1093/pubmed/fdt048 First published online: May 10, 2013
Mattocks C, Moorthie S, Wright C. Review of Massively Parallel DNA sequencing technologies The HUGO Journal. 2011