Last month former Brasenose student Helen Firth delivered the inaugural Lady Estelle Wolfson lecture in translational medicine at The Royal College of Physicians’. Dr Firth was chosen by a panel to give the lecture as part of the College’s Advance Medicine course, and she was selected as a result of her ‘outstanding contribution in translational medicine with demonstrable benefit to patients’.
During her talk, Dr Firth outlined the progress of the Deciphering Developmental Disorders (DDD) study. The aim of DDD is to advance clinical genetic practice for children with developmental disorders by the systematic application of the latest microarray and sequencing methods while addressing the new ethical challenges raised. The study is using genome-wide sequencing technologies to find diagnoses and discover new causes of rare genetic disorders in children. It is a UK-wide initiative that has recruited 14,000 families across the UK in whom conventional genetic testing had failed to identify a diagnosis.
Dr Firth said: “In this ‘hard to diagnose’ group, the DDD study is currently finding diagnoses for 35 per cent and has discovered 30 new genes. We are hopeful that both of these figures will increase as the study progresses. Results of the DDD study are being shared through DECIPHER, a web-based platform linking clinical features (phenotype) to genetic variants that is helping to map the clinical genome.”
Dr Firth came to Brasenose College to study Medicine in 1975, and was among the second cohort of women to join us. Dr Helen Firth is now a Consultant Clinical Geneticist at Cambridge University Hospitals, an Honorary Faculty Member of the Wellcome Trust Sanger Institute, and a Bye-Fellow of Newnham College, Cambridge. 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. You can read more about her work here.
Reflecting on her time at Brasenose, Dr Firth commented “I received a first class education at Brasenose that gave me the intellectual confidence and ambition to aspire to improve my clinical practice through research. Whilst at Brasenose I also made some wonderful and enduring friendships.”
We congratulate Dr Firth on being selected for this prestigious lecture and on her successful research career thus far.
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