A recent commentary from Benusiglio (2015) in the Intractable & Rare Diseases Research journal discussed the current challenges in BHD. It begins by mentioning the complex nature of BHD pathology: how can mutations in a single gene cause such different clinical features? Benusiglio briefly discusses the known roles of mTOR and WNT signalling associated with the loss of FLCN in different tissues and acknowledges that further research is required to fully explain the varied pathologies. Also highlighted is the under-diagnosis of BHD which can lead to at-risk individuals not being monitored for renal tumour growth.
The second half of the commentary focused on the need for regular exchanges of ideas and the establishment of collaboration between experts worldwide. The BHD Symposia have provided such a platform and have previously resulted in the publication of state-of-art reviews and guidelines, and the initiation of new research projects. The patient sessions at these Symposia are also important as they enable informal interactions between patients, clinicians and researchers. Benusiglio also recommends the BHD Foundation website as a source of reliable and up-to-date information on BHD for both patients and professionals.