Highlights of the Third BHD Symposium

Last week, the Third BHD Symposium was held in Maastricht, the Netherlands. The two-day meeting was a huge success, bringing together over 80 BHD researchers, clinicians and patients from all over the world. Up-to-date research was presented and scientists had the opportunity to discuss future work and collaborations, as well as sharing resources. All the participants enjoyed spending time in the beautiful city of Maastricht, which was an excellent location for our Symposium.

The meeting began with a clinical session, where patient data from several countries was presented. It was clear from this session that the lifetime risk of RCC for patients with BHD varies between studies. This is most likely due to different ascertainment biases of patients and it highlights the importance of sharing clinical data between labs. Novel FLCN mutations were also discussed, along with those that occur frequently or that appear to be clinically significant. At the NCI, 94% of BHD patients now have an identifiable FLCN mutation. The mutation detection rate is continually improving, which will result in a faster and more accurate diagnosis of BHD syndrome.

The basic science sessions discussed our increasing understanding of FLCN’s role in several complex signalling pathways, such as the mTOR, TGF-β and HIF pathways. Researchers are now beginning to understand how these pathways overlap and FLCN’s position in each. Leading scientists in the field of HLRCC, a syndrome that closely overlaps with BHD, also discussed recent clinical and biological research. The prize for the best talk was awarded to Dr Ravi Nookala from the University of Cambridge who presented his research on the structural studies of FLCN; the identification of FLCN’s structure is a significant step towards understanding FLCN’s role in the cell.

Several posters were also presented on both BHD clinical and basic research. The best poster prize was awarded to Dr Elaine Dunlop from Cardiff University, who presented her work on the ULK1 inhibition of mTORC1 signalling. This work helps to further our understanding of the regulation of mTOR. Additional information on all the talks and posters presented is available by downloading the abstract booklet.

Finally, a big thank you to everyone who took part and contributed to the success of the Symposium – to all the attendees, the speakers and of course the organisers, for all their hard work. We look forward to seeing you all again next year!

www.bhdsyndrome.org – the primary online resource for anyone interested in BHD Syndrome.

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