Forum topic: BHD Research Blog

Last month, our conference summary highlighted some of the work that is taking place in the field of gene therapy. Currently, many advanced gene therapy systems are derived from viruses, such as the adenovirus and lentivirus. However, these viral vectors … Continue reading →

This week we highlight the work of Dr Tim Cash, who worked on BHD syndrome as part of his PhD studies in the lab of Professor Celeste Simon at the Abramson Family Cancer Research Institute, University of Pennsylvania. Dr Cash … Continue reading →

DNA repair proteins appear to play a significant role in both the development and progression of renal cell carcinoma, as has been discussed in earlier blog posts from 2010 and 2011. These proteins are responsible for repairing DNA lesions caused … Continue reading →

We are delighted to announce further details for the Fourth BHD Symposium, which will be held in Cincinnati, Ohio, USA on 28th-30th March 2012. The meeting will take place in the Vontz Center for Molecular Studies at the University of … Continue reading →

Late last year, the European Society of Gene and Cell Therapy and the British Society for Gene Therapy hosted a joint annual congress in Brighton, UK. The congress covered all aspects of gene and cell therapy and there were also … Continue reading →

Mutations in VHL are known to be associated with the development of clear cell renal cell carcinoma (ccRCC), and recent sequencing studies have identified several genes involved in chromatin regulation that are also frequently mutated in ccRCC (Dalgliesh et al., 2010; … Continue reading →

This week we would like to introduce Dr Seung-Beom Hong, a post-doctoral researcher in the lab of Professor Vera Krymskaya at the University of Pennsylvania. Dr Hong was part of the group at the NIH that helped to identify and … Continue reading →

Many studies into BHD syndrome have investigated the prevalence of pneumothorax and renal cell carcinoma amongst FLCN mutation carriers. Previous estimations of the RCC risk have varied from 6.5% to 34% (Toro et al., 2008), and for pneumothorax, from 24% … Continue reading →

The RARE 2011 conference was an exceptional opportunity to focus on the development of effective policies and infrastructure for rare diseases. Speakers, including representatives from Orphanet, public bodies, funding organisations, patient associations, research centres, and industry, analysed the obstacles and … Continue reading →

HLRCC, caused by mutations in FH, predisposes patients to develop papillary renal cell carcinoma. FH-deficient cells have an accumulation of fumarate, which leads to the stabilisation of HIF-α subunits and therefore an increase in HIF-α levels. An increased expression of … Continue reading →