Month: October 2010

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

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

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