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Helen Firth

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British geneticist
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
Scholia has a profile for Helen Firth (Q92271212).

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.

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. Since 2006, Firth has been an Honorary Visiting Senior Research Fellow in the University of Cambridge’s School of Clinical Medicine. 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."

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."

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

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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