More clinical research and a better understanding of the basic biology will facilitate development of drugs and other therapies to treat, and eventually cure, BHD syndrome.
For example, screening drug libraries could identify novel therapeutic compounds. Additionally, candidate drugs already known to affect a relevant pathway (e.g. mTOR signalling) or a phenotypically similar disorder (e.g. TSC or VHL) could be tested. Some of these drugs could already be approved for clinical use, and consequently, be rapidly repurposed for the treatment of BHD syndrome.
Additionally, gene and stem cell therapy hold much promise in the treatment of a wide variety of disorders. Research in Drosophila indicates that FLCN may play a role in stem cell maintenance (Singh et al., 2006) - therapies could also be developed which may exploit this link. Perhaps a functional copy of the FLCN gene could be inserted into FLCN-null or -heterozygous cells, either preventatively or to reverse the phenotype. While these technologies are still developing, gene therapy has been used with some success in other organ systems, such as the eye (Maguire et al., 2008) and for Parkinson’s in the brain (LeWitt et al., 2011).
