The Royal College of Physicians’ first lecture in Translational Medicine was delivered by Newnham Fellow, Dr Helen Firth, last night.
Dr Firth was chosen by an RCP panel to give the inaugural Lady Estelle Wolfson lecture as part of the RCP’s Advance Medicine course.
She was selected as a result of her ‘outstanding contribution in translational medicine with demonstrable benefit to patients’.
Dame Carol Black, Principal of Newnham College and a former President of the RCP, was in the audience to watch Dr Firth outline the progress of the Deciphering Developmental Disorders (DDD) study www.ddduk.org.
The study is using genome-wide sequencing technologies to find diagnoses and discover new causes of rare genetic disorders in children.
This 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’s full biography