Professor Helen Firth

DM (Oxon), FRCP, DCH, FMedSci

Bye-Fellow, Postgraduate Mentor

Picture of Helen Firth

College Roles

  • Bye-Fellow
  • Postgraduate Mentor

University Roles

  • Consultant Clinical Geneticist, Cambridge University Hospitals
  • Honorary Faculty Member, Wellcome Trust Sanger Institute, Hinxton
  • Honorary Professor of Clinical Genomics, Addenbrooke’s Hospital, in the Department of Medical Genetics


Telephone: +44 (0) 1223 216446


Picture of Helen Firth


Professor Helen Firth, DM, FRCP,FMedSci 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, an Honorary Professor of Clinical Genomics: at Addenbrooke’s Hospital in the Department of Medical Genetics and a Bye-Fellow of Newnham College. Helen chairs the Joint Committee on Genomic Medicine of the Royal College of Physicians, Royal College of Pathologists and British Society of Genetic Medicine.

After the human genome was sequenced in 2004, she initiated the DECIPHER project ( to put that data to use. DECIPHER 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. More than 280 centres of clinical genetics around the world now contribute data to DECIPHER and the project has been cited by >2,200 publications in the peer-reviewed scientific literature. In June 2020, a major update to DECIPHER (v.10) now allows researchers and clinicians to input, interpret and share all types of genomic variants in all regions of the genome. DECIPHER today continues to bring emerging knowledge of human genetics and genomics to the forefront of clinical practice.

In 2020, Helen was elected as a Fellow of the Academy of Medical Sciences.

Research Interests

Since 2010 Professor Firth has been Clinical Lead for the Deciphering Developmental Disorders study (DDD study) ( 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 ~13,500 children with severe developmental disorders to improve the diagnosis of these conditions and to further the understanding of their genomic architecture and biology. The DDD study has now enabled diagnoses for thousands of children across the UK and has resulted in the discovery of >50 new genes and in >200 publications in the scientific literature.

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

· Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders. Wright CF, McRae JF, Clayton S, Gallone G, Aitken S, FitzGerald TW, Jones P, Prigmore E, Rajan D, Lord J, Sifrim A, Kelsell R, Parker MJ, Barrett JC, Hurles ME, FitzPatrick DR, Firth HV. Genet Med. 2018;10:1216

· Paediatric genomics: diagnosing rare disease in children. Wright CF, FitzPatrick DR, Firth HV. Nat Rev Genet. 2018;19:253-268