Consultant in Clinical Genetics & Genomic Medicine, University of Cambridge

Professor Helen Firth DM FRCP FMedSci is a Consultant Clinical Geneticist at Cambridge University Hospitals and Hon Professor of Clinical Genomics at the University of Cambridge. She is an Honorary Faculty Member of the Wellcome Sanger Institute and Bye-Fellow of Newnham College, Cambridge. Her main research interest is mapping the clinical genome by matching rare genomic variants to phenotype to empower diagnosis and discovery in rare disease.

In 2004, she initiated the DECIPHER project (www.deciphergenomics.org) that enables clinicians and scientists around the world to share information about rare genomic variants to facilitate diagnosis and help to elucidate the role of genes and variants whose function is not yet known. DECIPHER is a global project with more than 300 participating projects across six continents, covering the breadth of rare disease at a phenotypic and genotypic level. DECIPHER has been cited by over 4,000 publications.

Since its inception in 2010, Prof Firth has been Clinical Lead for the Deciphering Developmental Disorders study (DDD study) (www.ddduk.org) one of the largest nationwide, genome-wide sequencing projects in rare disease. The DDD study is a partnership project between the UK NHS Genetics Services and Wellcome Sanger Institute that has exome sequenced 33,500 individuals. This has enabled detailed genomic analysis of ~13,500 children with severe developmental disorders & their parents, to improve the diagnosis of these conditions and to further understand their genomic architecture and biology. The DDD study has found ~100 new genes for developmental disorders thus increased knowledge and opportunities for diagnosis.

Prof Firth is joint author of 'Firth HV & Hurst JA Oxford Desk Reference: Clinical Genetics & Genomics (2nd edition OUP 2017 ISBN 978-0-19-955750-9)’.