Do you want to stay up to date with the latest BHD news? This is the place to be!
Here we will let you know about the latest BHD research, events, and opportunities to get involved with our work.
In this blog, we discuss a published paper by Woodford et al., which explores the reason why the loss of folliculin (FLCN), the gene mutated in Birt-Hogg-Dubé syndrome (BHD), drives tumour development.
Earlier this year we wrote a blog post on the discovery of a new genetic condition that looks very similar to BHD. It was caused by a mutation in a gene called PRDM10. Another family has now been found to have this same genetic mutation.
These two cases include a man who presented to the dermatologist with multiple skin complaints and a woman with a history of recurrent pneumothorax.
BIRT is a patient registry for BHD. We hope to use the data to reach consensus on the diagnosis and management of BHD and, ultimately, to help researchers develop treatments or a cure.
Studies looking at BHD in the East Asian population suggest a difference in prevalence of the characteristics commonly found in BHD. Read this blog to learn more.
A recent study investigated the effect of loss of FLCN in renal tubular epithelial cells, a widely accepted in vitro model of human kidney function. Read to learn more.
A group of researchers in South Korea looked at people with BHD to determine the presenting characteristics of the disease and it revealed interesting results. In this blog, we discuss the study and why the findings are so important.
A research letter by Bajwa et al., discusses a patient with BHD who was found to have multiple extracardiac rhabdomyomas and explores whether they could be linked.
In this blog, we take a deeper look at a study, which investigated the relationship between the FLCN gene and iron homeostasis.
A collaborative project involving researchers in the USA, Japan and Singapore showed there was an increase in activated phagocytes in FLCN mutant mice that mimic human BHD.
A recent study investigated the genes that may cause parathyroid cancer. In this study, the researchers found the same genetic variants associated with BHD in some patients with parathyroid cancer. This blog will discuss the results and shed some light on
In this blog, we discuss a study which investigated the loss of folliculin and how it can lead to cellular dysfunction.