Month: November 2011

In our last conference summary, it was noted that a number of clinical trials are underway to find an effective treatment for tuberous sclerosis complex (TSC). These trials use the mTORC1 inhibitors rapamycin and everolimus to compensate for mutations in the TSC1 and TSC2 genes. The results of one such trial have recently been reported … Read more

Hypoxia inducible factor (HIF) regulates processes such as cell proliferation and metabolism, and it has been implicated in tumour growth in several disorders such as VHL and TSC. Preston et al. (2010) demonstrated that HIF-1α activity was increased in FLCN-null cells and that there was an increase in the transcription of HIF target genes such … Read more

Thank you very much for taking the time to complete our blog survey. We had a good response with many positive comments. In particular, we are pleased to hear that so many of you found the blog informative with regards to the current state of BHD research. Nevertheless, do feel free to comment or ask … Read more

In this month’s lab-profile we introduce Professor Maurice van Steensel, a Professor of genetic dermatology at the University Hospital Maastricht. Professor van Steensel leads a research group studying the role of FLCN in BHD syndrome and he is also a founding member of the European BHD Consortium. As a clinician, Professor van Steensel is in … Read more