Author Archives: Duncan Azzopardi

After adding the paper ‘Skin tumors as marker lesions for tumor syndromes’ by Mentzel et al (Pathologe. 2010 Oct;31(6):489-96) to the BHD Literature Database, I wondered how informative spontaneous pneumothorax incidences would be for BHD Syndrome. BHD is generally though … Continue reading →

A recently published paper by Truong et al (link) providing two case reports of Smith-Magenis Syndrome (SMS) patients caught my eye yesterday: SMS is caused by deletions of 17p11.2, a chromosomal region that encompasses the retinoic induced-1 (RAI1) gene, although … Continue reading →

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 … Continue reading →

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 … Continue reading →

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 … Continue reading →

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 … Continue reading →

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, … Continue reading →

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 … Continue reading →

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, … Continue reading →

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 … Continue reading →