Dr Helen Firth, Consultant Clinical Geneticist and Bye-Fellow of Newnham College, has been elected to the prestigious Fellowship of the Academy of Medical Sciences. She is among 50 leading UK researchers elected to the Academy in 2020.
The new Fellows have been chosen for their 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.
Dr Helen Firth, DM, FRCP, is a Consultant Clinical Geneticist at Cambridge University Hospitals. Her 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. In 2004, she initiated the DECIPHER project (http://decipher.sanger.ac.uk), which enables clinicians and scientists around the world to share information about rare genomic variants to facilitate diagnosis and help to elucidate the role of genes whose function is not yet known.
Alison Rose, Principal of Newnham College, said “I congratulate Dr Helen Firth on being elected to this Fellowship for her groundbreaking research, including work on genomic analysis of children with severe developmental disorders to improve the diagnosis of these conditions and to further the understanding of their genomic architecture and biology. We are delighted that Helen is a member of the Newnham community, which includes distinguished researchers across a wide range of disciplines. It makes for some fascinating conversations in College.”
Professor Sir Robert Lechler PMedSci, President of the Academy of Medical Sciences said: “This year our new Fellows announcement happens amidst a global health crisis. Never has there been a more important time to recognise and celebrate the people behind ground-breaking biomedical and health research, working harder than ever to further knowledge and protect patients and the public. It brings me great pleasure to congratulate the new Fellows, and see our Fellowship grow to even greater heights of evidence-based advice, leadership and expertise.”
The new Fellows will be formally admitted to the Academy on 25 June 2020.