Dr. Helen Firth FMedSci

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.|