Helen Firth is Consultant Clinical Geneticist at the Wellcome Trust Sanger Institute. |Her early academic work demonstrated a non-random association of specific birth defects with early chronic villus sampling for prenatal diagnosis of genetic disease, which had a major and beneficial influence on clinical practice world-wide. At the Sanger Institute she has established the DECIPHER web-accessible database for clinical interpretation of genomic mutations. It is difficult to overstate the importance of this resource in routine clinical genetics practice worldwide. It is used by almost all UK NHS molecular diagnostic laboratories and has evolved as a resource for all disease associated genomic variation.|
Fellow
Back to directory listingDr. Helen Firth FMedSci
Job Title
Consultant Clinical Geneticist & Hon Faculty Member, Wellcome Sanger Institute
Department
`Hon Professor of Clinical Genomics, University of Cambridge
Institution
Addenbrooke's Hospital
Year elected
2020
Interests
SpecialitiesMapping clinically relevant variants in the human genome. Data-sharing to improve diagnosis and catalyse discovery.
Section committee elected byMedical and veterinary specialties and paediatrics