Forum topic: BHD Research Blog

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 … Continue reading →

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 … Continue reading →

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 … Continue reading →

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 … Continue reading →

In July, the Beatson International Cancer Conference took place at The Beatson Institute for Cancer Research in Glasgow, UK. The Beatson Institute is a Cancer Research UK-funded centre which focuses on understanding cancer cell behaviour and developing new therapies and … Continue reading →

HIF1α is a transcriptional regulator which plays an essential role in the cellular response to hypoxia. As discussed in last week’s blog, prolyl hydroxylases (PHDs) mark HIFα subunits for degradation, but HIF1α can also be regulated by reversible acetylation. Earlier … Continue reading →

Mutations in Fumarate Hydratase (FH) cause HLRCC, a kidney cancer syndrome related to BHD. FH is an enzyme involved in the TCA cycle and its deficiency results in the accumulation of fumarate within the cell. This accumulation leads to increased … Continue reading →

As mentioned in our latest newsletter, several new interviews were filmed at the Third BHD Symposium, and have been posted to BHDSyndrome.org. Dr Derek Lim’s work at the University of Birmingham has been described previously, including his contribution to the … Continue reading →

As we are always trying to improve and update the content on BHDSyndrome.org, it would be great to know what you think of the BHD research blog. Using this survey, we hope to find out what you like and dislike … Continue reading →

In order to further understand the clinical aspects and symptoms of BHD syndrome, it is important that novel findings discovered during patient analysis are published in case reports. This assists in unravelling genotype-phenotype correlations, and also in identifying trends, for … Continue reading →