Helen Firth

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

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.