HIF signalling joins the BHD network

Now we’ve been introduced, I thought I’d draw your attention to a recently published paper that has confirmed and expanded our understanding of the pathogenic mechanisms underlying BHD syndrome. As Duncan mentioned in earlier posts, BHD syndrome shares some phenotypic similarities with other rare diseases, such as HLRCC, TSC and VHL disease. Hypoxia-inducible factor (HIF) … Read more

The Third International BHD Symposium … and us!

Many apologies for the break in posting – we’ve had a change of guard at the Myrovlytis Trust. Duncan has moved on to coordinate the development of the Lung Research Wales Research Portfolio, and Vicki and I have recently joined the Trust. You’ll be hearing from us in the future, but to give you guys … Read more

The ‘Partnership for Cures’ project

The process of identifying a suitable drug target for any given disease (inherited or otherwise) can be an extremely long process; translational research, drug discovery and clinical trials all mean that identifying and issuing a treatment can take decades and a considerable amount of money. The ‘Partnership for Cures’ program funds drug repurposing projects enabling … Read more

Coming soon: BHD Researcher Interviews

www.BHDSyndrome.org is the primary online reference site for anyone interested in BHD Syndrome, but as well as providing access to information, we have also been trying to cultivate an online BHD community through our online forum. In order to keep the BHD community informed about scientific research being carried out on BHD Syndrome, we will … Read more

Novel Mutations

I had originally intended to blog about a novel entire exon 14 deletion in a female BHD patient that has been identified by Sempau et al, (Actas Dermosifiliogr. 2010 Sep;101(7):637-40). However, since the article is only available in Spanish, I thought it would be prudent to wait for the English translation to be issued (which … Read more

Developing a BHD Patient Voice

One of the more resounding messages that came out of the recent IKCC meeting (see last blog) was the power of proactive rare disease communities, and how patient advocacy groups can use this to inform new research. The benefits don’t stop there though. We know that BHD Syndrome is rare, so very often a BHD … Read more

1st International Conference for Organizations Representing Patients with Kidney Cancer

Last weekend the Myrovlytis Trust attended the 1st International Conference for Organizations Representing Patients with Kidney Cancer in Frankfurt, Germany. The meeting, organised by the International Kidney Cancer Coalition, brought together a global community of patient advocacy groups, cancer survivors, clinicians and researchers to discuss how best to support individuals effected by kidney cancer. Overall … Read more

Resource: Familial Cancer Syndromes

Familial Cancer Syndromes is a relatively new online resource that can be found here. As the title suggests it provides detailed scientific information on several  inherited syndromes, more specifically there is now a chapter on BHD Syndrome that researchers and the general public may find useful. I find it reassuring to see references to BHD … Read more


Last week I wrote about the possible contribution to renal tumourigenesis posed by inactivation (or deregulation) of DNA repair enzymes. Following on from that theme I found a paper by Komori et al, 2009* in Oncogene entitled ‘A novel protein, MAPO1, that functions in apoptosis triggered by O6-methylguanine mispair in DNA’. In it, the authors … Read more

The role of DNA repair enzymes in BHD associated renal tumourigenesis?

The focus of scientific research into BHD Syndrome should centre on elucidating the biological role of folliculin (FLCN) within the cell, but a recent paper in the European Journal of Cancer has brought the topic of DNA repair enzymes into light. The multi-step model for tumourigenesis proposes that the tumourigenic growth of malignant cells from … Read more