Month: April 2013

The aim of this year’s Rare Disease Day, Rare Disorders Without Borders, was to promote the message that international collaboration between patients, clinicians and researchers is imperative to find cures for rare diseases. Indeed, this has been the feeling of patients and researchers for some time, and this week’s blog discusses some new projects and … Read more

Several signalling pathways – namely the mTOR, HIF and insulin signalling pathways – are known to slow ageing and increase longevity under certain conditions. This is a topic of much research, and was discussed at the recent “Talks about TORCs” meeting mentioned in last week’s blog. A recent study by Gharbi et al. has now … Read more

Last month, the Third Crick Symposium was held in London (UK), with the aim of discussing ways in which basic biological research could progress from “Genetics to molecules to therapies”. In particular, this meeting brought together chemists, biologists and clinicians from what will be the new Francis Crick Institute in London, which is scheduled to … Read more

The cell cycle is a tightly controlled process, requiring both oncogenes, which drive cell division and growth, and tumour suppressor genes, which prevent cells from growing and dividing too quickly. BHD Syndrome is caused by autosomal dominant mutations in the FLCN gene; given that a common characteristic of all three symptoms of BHD – fibrofolliculoma, … Read more