Helen V Firth

Helen V Firth

Helen Firth is a Consultant Clinical Geneticist at Cambridge University Hospitals Trust. Since 2004, Helen has collaborated with researchers at the Wellcome Sanger Institute and elsewhere to investigate how the application of new genomic technologies can improve the diagnosis of severe developmental disorders. Helen has been central to the development of the DECIPHER database and Deciphering Developmental Disorders (DDD) project.

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Helen graduated from Oxford in 1981, with a degree in Medicine and went on to specialise in paediatrics and genetics. In 1999, Helen completed her DM and, in the same year, went on to become a consultant in Clinical Genetics at Addenbrooke's Hospital in Cambridge. Since 2006, Helen has been an Honorary Visiting Senior Research Fellow in the University of Cambridge's School of Clinical Medicine. Since 2004, Helen has worked with Prof Matthew Hurles and the web team at the Wellcome Sanger Institute to develop the DECIPHER platform, a resource that is used worldwide by clinical geneticists and clinical scientists to interpret data from genomic analysis.

Helen is the NHS Chief Investigator for the Deciphering Developmental Disorders (DDD) project, which she oversees in collaboration with Prof Matt Hurles at the Sanger Institute, and Professor David Fitzpatrick (MRC Human Genetics Unit, Edinburgh), Dr Caroline Wright (University of Exeter) and Professor Michael Parker (Ethox centre, Oxford). The DDD project is a large-scale collaboration between the Sanger Institute and the 23 NHS Regional Genetic Services in the UK and aims to understand the genomic basis of severe developmental disorders and improve their diagnosis and management. Helen is Chair of the Joint Committee on Genomic Medicine for the Royal College of Physicians, the Royal College of Pathologists and the British Society of Genomic Medicine. She is a Bye-Fellow of Newnham College, Cambridge and joint author of Oxford Desk Reference Clinical Genetics and Genomics (OUP 2005 & 2015).

I am the clinical lead for the following projects at the Sanger Institute: