Month: May 2013

This week we would like to introduce you to the work of Professor Vera Krymskaya, Associate Professor of Medicine at the University of Pennsylvania Perelman School of Medicine. Professor Krymskaya’s primary research interest is how signalling pathways cause disease when perturbed, with a focus on the pulmonary diseases Lymphangioleiomyomatosis (LAM) and Birt-Hogg-Dubé (BHD) Syndrome. Like … Read more

Scurvy was a debilitating ailment that commonly affected sailors in the 18th Century. In 1747, James Lind conducted one of the first ever clinical trials, by giving sailors with scurvy different dietary supplements and documenting the effects on their health. In commemoration of James Lind’s work, International Clinical Trials Day is celebrated on the 20th … Read more

The signalling diagram has been updated to include the following recent research papers: FNIP2 causes MNU-induced apoptosis (Sano et al., 2013) FLCN inhibits MMP9 (Pimenta et al., 2012) FLCN inhibits HIF-1a, mTORC1 and mTORC2 (Nishii et al., 2013) FLCN and PTEN compound heterozygosity causes oncogenesis (Pradella et al., 2013) FLCN and SSH2 are synthetically lethal … Read more

As briefly mentioned in last week’s blog, the inaugural conference of the International Rare Disease Research Consortium (IRDiRC) was held in Dublin earlier this month. The conference brought together researchers, clinicians, policy makers and patient organisations from across the globe to share recent successes in the field of rare disease research and to discuss how … Read more