World first: gene therapy trial for rare disease patient

A patient at BHP’s Queen Elizabeth Hospital Birmingham (QEHB) has become the first person in the world to take part in a pioneering gene therapy trial for his rare disease. Simon Smith, 45, was diagnosed with Ornithine Transcarbamylase (OTC) deficiency as a teenager.   Although he defied medical expectations by living a full life in … Continue reading “World first: gene therapy trial for rare disease patient”

Genome sequencing during pregnancy identifies developmental disorders

Research carried out in collaboration with BHP founder member the University of Birmingham has found that genetic testing improves the diagnoses of abnormalities in developing babies that are picked up during ultrasound scans. The research, published today in The Lancet, was carried out by the University’s Institute of Metabolism and Systems, Wellcome Sanger Institute, University of … Continue reading “Genome sequencing during pregnancy identifies developmental disorders”

Award win for cross-city dermatology study

A team of dermatologists from hospitals around Birmingham were delighted to be awarded a prestigious trophy for the ‘Best Scientific Session Paper’ at the 98th Annual Meeting of British Association of Dermatologists (BAD), held in Edinburgh earlier this year. The winning paper, written by clinicians from both of the BHP trusts (University Hospitals Birmingham (UHB) … Continue reading “Award win for cross-city dermatology study”

Birmingham paediatric cardiology study identifies key research priorities

Cardiology experts from Birmingham Health Partners have led the first national study into identifying research priorities for patients diagnosed with single-ventricle heart conditions. Single-ventricle heart conditions occur in about 2 to 3 in every 10,000 births, and typically children have to undergo three or more open heart surgeries before school age, culminating in the Fontan … Continue reading “Birmingham paediatric cardiology study identifies key research priorities”

Expert warns over little room for complacency over fall in twin stillbirth rates

A leading expert in fetal medicine at the University of Birmingham has warned that there is ‘little room for complacency’ over a fall in twin stillbirth rates as the reason for this phenomenon are complex. In a paper published today (November 27th 2018) in BJOG: An International Journal of Obstetrics & Gynaecology, Mark Kilby, Professor … Continue reading “Expert warns over little room for complacency over fall in twin stillbirth rates”