Month: February 2013

Rare Disease Day was founded by EURORDIS, an alliance of organisations and individuals who represent those with rare diseases in Europe, in order to raise awareness about rare diseases as a public health issue. The first Rare Disease Day was celebrated in Europe on 29th February 2008, the day chosen because it is, in itself, … Read more

We are happy to announce that registration for the Fifth BHD and Second HLRCC Symposium is now open, with discounted rates available till 31st March 2013. The Symposium will be hosted by Professor Stéphane Richard at the École du Louvre in Paris, France on 28-29th June 2013. Please do visit the dedicated Symposium website for more information regarding accommodation … Read more

Although it is generally accepted that FLCN has a role in mTOR signalling, precisely what this role is remains unclear (as illustrated in our signalling diagram and described here). mTOR signalling is known to control cell growth, proliferation and energy sensing and is dysregulated in a number of diseases, including cancer (reviewed by Laplante and … Read more

In 2011, a study by Tobino et al. discussed the differences between BHD syndrome and the cystic lung disease lymphangioleiomyomatosis (LAM), as described here. The importance of these differences has been underlined by a recent case report in which a BHD patient was initially diagnosed and treated for LAM (Pimenta et al., 2012). Interestingly, this report indicates that matrix metalloproteinases (MMPs) may … Read more