Month: December 2011

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; Varela et al., 2011 – as discussed in our previous blogs here and here). A new … Read more

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 characterise FNIP1 and FNIP2, which directly links FLCN with the key cellular energy sensor AMPK … Read more

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% to 38% (Schmidt et al., 2005; Toro et al., 2007; Toro et al., 2008). This … Read more

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 achievements in European management of rare diseases. One of the greatest obstacles is lack of … Read more

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 HIF target genes is believed to drive tumourigenesis. Along with FH, increased levels of HIF … Read more