Helen Firth

Helen V. Firth is a British geneticist who specialises in the application of new genomic technologies to improve the diagnosis of severe developmental disorders. She is clinical lead for the UK-wide Deciphering Developmental Disorders project and global DECIPHER platform for data-sharing in rare disease. In 2020, she was elected a Fellow of the Academy of Medical Sciences.

Helen Firth
Academic background
EducationBA, University of Oxford
DM, Brasenose College, Oxford
ThesisA study of limb-reduction and other birth defects in babies exposed to first trimester chorionic villus sampling (1998)
Academic work
InstitutionsNewnham College, Cambridge

Career

In 2004, Firth, who was working as a consultant clinical geneticist at Addenbrooke’s Hospital in Cambridge, established the global DECIPHER platform for data-sharing in rare disease following the publication of Human Genome Project.[1] Since 2006, Firth has been an Honorary Visiting Senior Research Fellow in the University of Cambridge’s School of Clinical Medicine.[2] Later, in 2011, Firth and colleague Caroline F. Wright published their findings as the clinical leads for the UK-wide Deciphering Developmental Disorders (DDD) project. The aim of the project was to "undertake systematic phenotyping and detailed genomic analysis for 12 000 children with severe undiagnosed developmental disorders."[3]

In 2020, she was elected a Fellow of the Academy of Medical Sciences for her "exceptional contributions to advancing biomedical science via world-leading research discoveries, running national science communication and engagement programmes and translating scientific advances into benefits for patients and the public."[4]

Firth is the co-author of two books, Clinical Genetics (1st ed 2005,[5] 2nd ed 2017[6] as Clinical Genetics and Genomics) and the Oxford Handbook of Genetics.[7]

References
  1. "DECIPHER: Fuelling Rare Disease Research". sangerinstitute.blog. 3 July 2019. Retrieved April 11, 2021.
  2. "Dr Helen V Firth Consultant Clinical Geneticist". sanger.ac.u. Retrieved April 11, 2021.
  3. Firth, Helen V.; Wright, Caroline F. (17 June 2011). "The Deciphering Developmental Disorders (DDD) study". Developmental Medicine & Child Neurology. 53 (8): 702–703. doi:10.1111/j.1469-8749.2011.04032.x. PMID 21679367.
  4. "Hospital consultants elected to prestigious academy". cambridgenetwork.co.uk. 14 May 2020. Retrieved 11 April 2021.
  5. Firth, Helen V.; Hurst, Jane A. (2005). Oxford desk reference : clinical genetics. Oxford: Oxford University Press. ISBN 9780192628961. OCLC 57251006.
  6. Firth, Helen V.; Hurst, Jane A. (2017). Oxford desk reference. Clinical genetics and genomics. Jane A. Hurst (Second ed.). Oxford, United Kingdom. ISBN 9780199557509. OCLC 1003317415.{{cite book}}: CS1 maint: location missing publisher (link)
  7. Bradley-Smith, Guy; Hope, Sally; Firth, Helen V.; Hurst, Jane A. (2010). Oxford handbook of genetics. Oxford: Oxford University Press. ISBN 978-0-19-954536-0. OCLC 351316550.
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