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.


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 Dr Nigel Carter and the web team at the Wellcome Sanger Institute to develop the DECIPHER database, a resource that is widely used by clinical geneticists and clinical scientists to interpret data from genomic array studies.

Helen is also part of the management team for the Deciphering Developmental Disorders (DDD) project, which she oversees in collaboration with Dr Nigel Carter, Dr Matt Hurles and Dr Jeffrey Barrett at the Sanger Institute, and Professor David Fitzpatrick (MRC Human Genetics Unit, Edinburgh) 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.

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