Biography:

Professor Firth’s 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.  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 (http://deciphergenomics.org ) to enable clinicians and scientists around the world to share information about rare genomic variants to facilitate diagnosis and to elucidate gene function. More than 250 centres of clinical genetics around the world now contribute data to DECIPHER and the project has been cited by >2,600 publications in the peer-reviewed scientific literature.  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 paediatric 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 understanding of their genomic architecture and biology. The DDD study has 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.  Helen is a Bye-Fellow of Newnham College, Cambridge. In 2020, Helen was elected as a Fellow of the Academy of Medical Sciences.

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

Books and links:

Joint-author of Oxford Desk Reference Clinical Genetics & Genomics (OUP) 1st edition (2005), 2nd edition (2017)

Co-author of Oxford Handbook of Genetics (OUP), 2010

DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research (authorea.com)

DECIPHER project

Deciphering Developmental Disorders (DDD study)