Dr Helen Firth


Bye Fellow

Picture of Helen Firth

College Jobs

  • Bye Fellow in Medicine

University Jobs

  • Consultant Clinical Geneticist, Cambridge University Hospitals
  • Honorary Faculty Member, Wellcome Trust Sanger Institute, Hinxton


Telephone: +44 (0) 1223 216446

Email: hvf21@cam.ac.uk

Picture of Helen Firth


Dr Helen Firth, DM, FRCP, is a Consultant Clinical Geneticist at Cambridge University Hospitals. Her main research interests are in mapping of the clinical genome and the matching of rare genomic variants to empower discovery and diagnosis in rare disease.

She is an Honorary Faculty Member of the Wellcome Trust Sanger Institute, and a Bye-Fellow of Newnham College.

In 2004, she initiated the DECIPHER project (http://decipher.sanger.ac.uk), which 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 whose function is not yet known.

Research Interests

Since 2010 Dr Firth has been Clinical Lead for the Deciphering Developmental Disorders study (DDD study) (http://www.ddduk.org) one of the world’s largest nationwide, genome-wide sequencing projects in rare disease. The DDD study is a partnership project between the UK NHS and Wellcome Trust Sanger Institute that is using detailed genomic analysis of ~14,000 children with severe developmental disorders to improve the diagnosis of these conditions and to further the understanding of their genomic architecture and biology.

Some recent publications include

  • Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER. Chatzimichali EA..Hurles ME, Firth HV, Swaminathan GJ. Hum Mutat. 2015 Jul 29 PMID: 26220709
  • Large-scale discovery of novel genetic causes of developmental disorders. Deciphering Developmental Disorders Study. 2015 Mar 12;519(7542):223-8 PMID: 25533962
  • Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Wright CF, Fitzgerald TW…Hurles ME, FitzPatrick DR, Firth HV; DDD study. 2015 Apr 4;385(9975):1305-14. PMID: 25529582
  • Policy challenges of clinical genome sequencing. Wright CF, Middleton A, Burton H, Cunningham F, Humphries SE, Hurst J, Birney E, Firth HV. 2013 Nov 22;347:f6845. PMID: 24270507