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Genomic and clinical studies make up the majority of published research into BHD Syndrome. Proteomics is the large scale analysis of proteins (or the ‘proteome’) and can be used to identify differential transcription of proteins and their biological activity. There are currently no proteomic based studies being performed in the field of BHD research.Would its … Read more

Makita et al, 2008 determined that TAZ is essential for developmental mechanisms involved in renal and pulmonary organogenesis and that its dysfunction may be a pathogenic mechanism in common human disease. Inactivation of TAZ in mice resulted in pathological changes in the kidney and lung that resemble the common human diseases polycystic kidney disease and … Read more

Eagle eyed visitors will by now have seen that we are currently utilising the Google Translate service to translate www.BHDsyndrome.org into several languages. At the moment, the site can be converted into French, Spanish, Dutch, German, Greek, Chinese and Japanese by clicking on the respective flag on the home page. The site will open up … Read more

Positive diagnosis of any disease, common or rare, is essential an essential step and a logical precursor to successful treatment or clinical management. In the case of rare diseases like BHD Syndrome, recognising that you may have developed a symptom is made more difficult by lack of awareness of BHD Syndrome by both the general … Read more

www.BHDsyndrome.org is not a website that likes to rest on it’s laurels and to that effect it’s been regularly updated with new and original content since it’s creation, ensuring that it becomes the primary online reference site for anyone interested in BHD Syndrome. However, we’d like to get your feedback on the scientific aspect of … Read more

Last week I blogged about a newly published article in the journal Molecular Cancer (link). In it, the authors compared the growth (in vitro and in vivo) of a cell line containing a series of  wildtype or mutant FLCN transgenes; determining that wildtype FLCN suppressed xenograft tumour growth in vivo. Gene expression profiling also showed … Read more

One of the biggest challenges currently facing BHD researchers is elucidating the role of FLCN’s within the cell. There’s no real way of fixing something unless you know how everything should normally fit into place, whether it be a bike, a car or even a human! A new article in the journal Molecular Cancer, by … Read more

Two scientific stories in the press have caught my eye this week. The first was the announcement that the discovery of DNA, made by the now legendary scientists James Watson and Francis Crick in 1953, has been voted the UK’s greatest scientific breakthrough of all time. This single event has proved to be the birth … Read more

The development of renal cell carcinoma, fibrofolliculomas on the face and trunk and pneumothorax are the widely accepted ‘triad’ of symptoms associated with BHD Syndrome. It’s also important to consider that other clinical manifestations are associated (or at the very least, have been noted to co-occur) with BHD Syndrome in some cases. These include a … Read more