Professor Helen Firth

I am a Consultant Clinical Geneticist at Cambridge University Hospitals, Hon Professor of Clinical Genomics at the University of Cambridge and an Honorary Faculty Member of the Wellcome Sanger Institute at Hinxton. My main research interest is mapping the clinical genome by matching rare genomic variants to phenotype to empower diagnosis and discovery in rare disease. 

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

Project/study information

In 2004, I 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.

I am 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 started in 2010 and 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. To date, DDD has led or been cited by, more than 300 publications.

Robust clinico-molecular diagnosis is key to the delivery of high-quality medical care and is the cornerstone of Genomic Medicine as applied to rare disorders. I am a co-investigator on the Wellcome funded PARADIGM project and clinical lead for G2P (Gene to Phenotype) that is accelerating genomic medicine with high confidence evidence based gene disease models (https://www.ebi.ac.uk/gene2phenotype/)