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.
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]
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