Helen V. Firth is a British geneticist who specialises in the application of new genomic technologies to improve the diagnosis of severe developmental disorders. She is clinical lead for the UK-wide Deciphering Developmental Disorders project and global DECIPHER platform for data-sharing in rare disease. In 2020, she was elected a

Fellow of the Academy of Medical Sciences Fellowship of the Academy of Medical Sciences (FMedSci) is an award for medical scientists who are judged by the UK Academy of Medical Sciences The Academy of Medical Sciences is an organisation established in the UK in 1998. It is one of ...

Career

In 2004, Firth, who was working as a consultant clinical geneticist at Addenbrooke’s Hospital in Cambridge, established the global DECIPHER platform for data-sharing in rare disease following the publication of

Human Genome Project The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a ...

. Since 2006, Firth has been an Honorary Visiting Senior Research Fellow in the

University of Cambridge , mottoeng = Literal: From here, light and sacred draughts. Non literal: From this place, we gain enlightenment and precious knowledge. , established = , other_name = The Chancellor, Masters and Schola ...

’s School of Clinical Medicine. Later, in 2011, Firth and colleague Caroline F. Wright published their findings as the clinical leads for the UK-wide Deciphering Developmental Disorders (DDD) project. The aim of the project was to "undertake systematic phenotyping and detailed genomic analysis for 12 000 children with severe undiagnosed developmental disorders." In 2020, she was elected a

for her "exceptional contributions to advancing biomedical science via world-leading research discoveries, running national science communication and engagement programmes and translating scientific advances into benefits for patients and the public." Firth is the co-author of two books, ''Clinical Genetics'' (1st ed 2005, 2nd ed 2017 as ''Clinical Genetics and Genomics'') and the ''Oxford Handbook of Genetics.''

References

{{DEFAULTSORT:Firth, Helen Living people Year of birth missing (living people) British women geneticists Alumni of Brasenose College, Oxford Fellows of Newnham College, Cambridge Fellows of the Academy of Medical Sciences (United Kingdom)