In November last year, the 7th National Cancer Research Institute (NCRI) Cancer Conference was held in Liverpool, UK. This conference focussed on all aspects of cancer research, from basic research to clinical care. Of note, Prof. Dr. Michael Hall from the University of Basel, Switzerland, gave a comprehensive introduction to mTOR signalling and its role in regulating cell growth. This is of particular relevance to BHD syndrome as FLCN is involved in the mTOR pathway (which is discussed in more detail here). In addition, Dr. Tomer Shlomi from Technion, the Israel Institute of Technology, discussed the use of computational models of human metabolism to aid the detection of novel therapeutic targets in cancer cells. Dr. Shlomi is part of the team which described the role of heam metabolism in the development of HLRCC (Frezza et al., 2011), and more information regarding this paper can be found in a previous blog post.
A month later, in December 2011, the British Thoracic Society (BTS) Winter Meeting took place in London, UK. We were keen to attend this meeting as it was noted that lung-associated issues were of particular interest to patients and family members at the Third BHD Symposium (as highlighted in this overview of the Patient and Family sessions in our research blog). Bearing in mind our recent gene therapy blog post, Dr Gwyneth Davies from the UK Cystic Fibrosis Gene Therapy Consortium presented data from a clinical trial using a non-viral, lipid-mediated gene therapy technique. After assessing transgene expression and the safety of the agent, a multi-dose trial for this therapy is now envisioned. In view of this, could a similar system be used to treat the lung symptoms of BHD syndrome?
Having attended these meetings focussing on the lung and cancer, this January we attended the 7th Medical Dermatology Meeting in London organised by the British Association of Dermatologists (BAD). This year the conference focussed on dermatology, endocrinology and metabolic medicine, and it was notable that that a wide variety of disorders can be diagnosed by examining the skin, much like BHD syndrome. The general importance of vitamin D and sun protection was also emphasised, both of which are important for bone and skin health respectively.
Finally, please do join us at the Fourth BHD Symposium in Cincinnati on 28th-30th March 2012 to learn more about BHD syndrome. In addition, do visit our Conferences and Events page on BHDSyndrome.org to keep up-to-date with other events that are taking place in the near future.
- Frezza C, Zheng L, Folger O, Rajagopalan KN, MacKenzie ED, Jerby L, Micaroni M, Chaneton B, Adam J, Hedley A, Kalna G, Tomlinson IP, Pollard PJ, Watson DG, Deberardinis RJ, Shlomi T, Ruppin E, & Gottlieb E (2011). Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase. Nature, 477 (7363), 225-8 PMID: 21849978