In this blog post, Ségolène Aymé talks about a recent study published in the Orphanet Journal of Rare Diseases, where she is Editor-in-Chief, that could show us a new way forward for treating rare diseases.
Up-to-date knowledge of cause-specific mortality is essential for the formulation of health policies. Obtaining this evidence is a massive undertaking, and probably the largest attempt to do so is the landmark Global Burden of Disease Study 2010 (GBD 2010). This was the largest ever systematic effort to describe the global distribution and causes of major diseases, injuries,… Read more »
In this Q&A, Michael Inouye and Kathryn Holt, authors of a Software article recently published in Genome Medicine, tell us about the development of the software SRST2. SRST2 is a read mapping-based computational tool that allows fast and accurate detection of genes, alleles and multi-locus sequence types from whole genome short sequencing reads.
Electronic cigarettes (e-cigarettes, ECs) are the centre of much controversy due to public health concerns associated with some of its components including nicotine which is highly addictive. Additionally, the availability of such devices to young never-smokers and the re-normalization of smoking is a growing concern. This has been highlighted in the news lately where a study shows three times… Read more »
“No matter how complicated the research, or how brilliant the researcher, patients and the public always offer unique, invaluable insights. Their advice when designing, implementing and evaluating research invariably makes studies more effective, more credible and often more cost efficient as well.” Professor Dame Sally Davies (Foreword in Staley 2009) Patient and public involvement (PPI) in… Read more »
Today, 1st December, I’m sure many of us started by opening the first door of our advent calendars. The Christmas countdown beginning and all excited for mince pies and mulled wine. But 1st December, has great significance for millions, as it marks World AIDS Day, an opportunity for people worldwide to unite in the fight… Read more »