Helen V. Firth is a British geneticist who specialises in the application of new genomic technologies to improve the diagnosis of severe developmental disorders.
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.