We support projects that cover the range of understanding BHD syndrome, from basic research to therapeutic development. Researchers are currently investigating the biochemical processes in which Folliculin is involved and learning about its structure to understand the function of Folliculin. Research is ongoing to identify drugs to treat symptoms of BHD syndrome. Many of the investigators we work with are also involved in clinical research, such as analysing the risk of renal cancer.

We currently support more than a dozen projects, including the following:

Professor Stéphane Richard

Functional analysis of novel missense FLCN variants in patients affected with Birt-Hogg-Dubé syndrome

Dr Laura Pradella

Combined haploinsufficiency in inherited cancer

Dr Stephen Land

A tissue bank resource to investigate the link between VEGF-A signalling and pulmonary cysts formation in BHD Syndrome