BHD Research Blog Survey

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 about the blog so that we can tailor our posts and provide all our readers … Read more

A case report of localised fibrofolliculomas

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 example the age of onset of certain symptoms. Alonso-Gonzalez et al. (2011) recently reported the … Read more

Tuberous sclerosis complex and autophagy

Tuberous sclerosis complex (TSC) is a multi-system disorder caused by mutations in the TSC1 or TSC2 genes. As illustrated in the signalling diagram on BHDSyndrome.org, TSC1/2 plays an important role in regulating the mammalian target of rapamycin complex 1 (mTORC1), which is involved in a number of cellular functions including autophagy. Autophagy involves the degradation and recycling of … Read more

Lab-profile: Dr Ravi Nookala – University of Cambridge, UK

In this month’s lab profile we highlight the work of Dr Ravi Nookala, a structural biologist working in the lab of Professor Sir Tom Blundell in the Department of Biochemistry at the University of Cambridge. Dr Nookala is working on the structural biology of proteins involved in BHD syndrome. Knowing the structures of these proteins, … Read more

Synthetic lethality as a treatment for HLRCC

In the blog last week, I introduced synthetic lethality as a potential strategy for cancer therapy which targets tumour cells whilst having no effect on healthy tissue. Another synthetic lethality paper has recently been published in Nature, this time targeting fumarate hydratase (FH)-deficient cells (Frezza et al., 2011). Mutations in FH cause Hereditary Leiomyomatosis Renal … Read more