There has been considerable interest about the extent to which genetic factors interact with environmental and lifestyle factors in human traits. Alex Young and colleagues in Peter Donnelly’s group at the Wellcome Trust Centre for Human Genetics have used the latest UK Biobank data to discover novel interactions between genetic variants at the FTO locus and lifestyle factors, including sleep duration and alcohol consumption.
A study led by Professor Xin Lu has linked the gene for ASPP2, a regulator of p53, to a rare genetic disorder - 1q41q42 microdeletion syndrome, characterised by dysmorphic features, intellectual disability and brain morphological abnormalities.
Scientists from the UK and USA have used the intense X-rays generated at Diamond Light Source to gain important insights into how target molecules in skin cancer treatment can become resistant to drugs designed to fight the cancer, leading to ineffective treatment. “We are extremely excited by our results because the Smoothened molecule is a very unusual protein and it was technically very challenging to determine its crystal structure", explains Prof Christian Siebold.
Led by Professor Maarten De Vos and Dr Climent Casals-Pascual, scientists from the WTCHG and the Institute of Biomedical Engineering have used machine learning to diagnose childhood pneumonia. Their proposed solution involves smart algorithms that fully automate the interpretation of medical data which can be captured through affordable hardware.
In Parkinson’s disease, misfolded proteins such as α-synuclein accumulate in neuronal inclusions termed Lewy bodies. George Tofaris’s team from the University of Oxford Clinical Neuroscience Department and Benedikt Kessler from the TDI investigated the role of α-synuclein handling and the death of neurons that represents a hallmark of Parkinson’s disease.
An international collaboration between the University of Oxford and other European institutions has uncovered a correlation between a rare mutation in bowel cancers and a better prognosis, raising the possibility that patients with such tumours may not require chemotherapy after surgery. Dr David Church was joint senior author of the study.
While HIV is no longer the death sentence it once was, we are yet to defeat it entirely. However, a new study from Oxford University offers hope that HIV will eventually have nowhere to hide. Tom Calver spoke to Professor Lucy Dorrell about her work on clearing HIV from the body.
You can also listen to Professor Dorrell talk about the findings to BBC Radio 4 (1hr 20 minutes in).
The largest study of its kind into type 2 diabetes has produced the most detailed picture to date of the genetics underlying the condition. Professor Mark McCarthy is quoted on his involvement in the project.
You can listen to Professor McCarthy talk about this project in a podcast.
Professor Dave Stuart's group have studied the structure of the Ebola virus and the effect of two drugs, toremifene and ibruprofen on the virus. The study was the first to solve the unligated structure of the Ebola virus glycoprotein and the results were published in Nature.
A database of individual participant-level information could benefit schistosomiasis clinical research and treatment policies, according to a study published PLOS Neglected Tropical Diseases.
The study was conducted by a group of researchers from the Centre for Tropical Medicine and Global Health at the University of Oxford, the Luxembourg Institute of Health and TDR (Special Programme for Research and Training in Tropical Diseases).