Honorary Faculty - Helen V Firth

Helen Firth is a Consultant Clinical Geneticist at Cambridge University Hospitals Trust. Since 2004, Helen has collaborated with researchers at the Wellcome Trust Sanger Institute and elsewhere to investigate how the application of new genomic technologies can improve the diagnosis of severe developmental disorders. Helen has been central to the development of the DECIPHER database and Deciphering Developmental Disorders (DDD) project.

Helen graduated from Oxford in 1981, with a degree in Medicine and went on to specialise in paediatrics and genetics. In 1999, Helen completed her DM and, in the same year, went on to become a consultant in Clinical Genetics at Addenbrooke's Hospital in Cambridge. Since 2006, Helen has been an Honorary Visiting Senior Research Fellow in the University of Cambridge's School of Clinical Medicine. Since 2004, Helen has worked with Dr Nigel Carter and the web team at the Wellcome Trust Sanger Institute to develop the DECIPHER database, a resource that is widely used by clinical geneticists and clinical scientists to interpret data from genomic array studies.

Helen is also part of the management team for the Deciphering Developmental Disorders (DDD) project, which she oversees in collaboration with Dr Nigel Carter, Dr Matt Hurles and Dr Jeffrey Barrett at the Sanger Institute, and Professor David Fitzpatrick (MRC Human Genetics Unit, Edinburgh) and Professor Michael Parker (Ethox centre, Oxford).

The DDD project is a large-scale collaboration between the Sanger Institute and the 23 NHS Regional Genetic Services in the UK and aims to understand the genomic basis of severe developmental disorders and improve their diagnosis and management.

Selected Publications

  • Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs).

    Povey S, Al Aqeel AI, Cambon-Thomsen A, Dalgleish R, den Dunnen JT, Firth HV, Greenblatt MS, Barash CI, Parker M, Patrinos GP, Savige J, Sobrido MJ, Winship I, Cotton RG and Ethics Committee of the Human Genome Organization (HUGO)

    Human mutation 2010;31;11;1179-84

  • Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

    Zweier M, Gregor A, Zweier C, Engels H, Sticht H, Wohlleber E, Bijlsma EK, Holder SE, Zenker M, Rossier E, Grasshoff U, Johnson DS, Robertson L, Firth HV, Cornelia Kraus, Ekici AB, Reis A and Rauch A

    Human mutation 2010;31;6;722-33

  • 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation.

    Malan V, Raoul O, Firth HV, Royer G, Turleau C, Bernheim A, Willatt L, Munnich A, Vekemans M, Lyonnet S, Cormier-Daire V and Colleaux L

    Journal of medical genetics 2009;46;9;635-40

  • DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

    Firth HV, Richards SM, Bevan AP, Clayton S, Corpas M, Rajan D, Van Vooren S, Moreau Y, Pettett RM and Carter NP

    American journal of human genetics 2009;84;4;524-33

  • Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.

    Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R and Carter NP

    Nature genetics 2006;38;9;1032-7

[Helen Firth]

DECIPHER and Deciphering Developmental Disorders (DDD)

Related links:

* quick link - http://q.sanger.ac.uk/nqmfo3kw