Interdisciplinary Insights

I’ve previously discussed how BHD Syndrome shares some phenotypic similarities with a few other rare diseases like HLRCC, TSC and VHL disease with the aim of trying to understand the molecular mechanisms underpinning BHD syndrome by comparing it to diseases whose causative genes/protein belong in the same signalling network. I’m sure by now everybody appreciates that BHD Syndrome is a rare disease and that the function of the protein known to be effected in BHD, Folliculin, is as yet still unknown and therein lies the problem. It’s difficult enough to identify or devise therapies for diseases where scientists have a solid understanding of the underlying mechanism Cystic Fibrosis for example, but it’s even harder to fix something when you don’t know what’s wrong with it.

Many young researchers are often encouraged to ‘read around their subject’ to gain a broader knowledge of their field and to able them to identify any experiments that may be applied to their research or to examine any scientific overlaps, which is why I started comparing BHD Syndrome to all those other diseases. However, in the field of rare diseases, interaction with likeminded peers (and ultimately ‘reading around your subject’) may prove to be more of a boon as more often than not the clinical experiences of previous ‘rare disease pioneers’ may prove to be extremely insightful too.

To that effect Dr Franck McCormack will be speaking at the second BHD Symposium in Washington DC, 22nd April 2010. Dr McCormack is an expert in the field of Lymphangioleiomyomatosis (LAM), a progressive lung disease that affects women almost exclusively and is characterised by the development of pulmonary cysts, which overtime, obliterates lung function.

Now whilst LAM may not necessarily be a ‘dead ringer’ for BHD Sndrome phenotypically or biochemically, Dr McCormack can guide us through a history of LAM research ranging from his experiences in recruiting study groups for basic research all the way through to running multicenter clinical trials and establishing a LAM tissue bank – all things that we hope can be achieved in the field of BHD research.

If you’re interested in hearing what Dr McCormack has to say please visit the dedicated second BHD Symposium 2010 site and register now.

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