News
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.
Pathogenic variants of FLCN and kidney cancer
Are there pathogenic variants of FLCN that do not cause kidney cancer, thus avoiding a requirement for lifelong surveillance? Read this blog to find out.
Who can be referred for genetic testing for inherited kidney cancer?
In this blog we talk about undergoing genetic risk assessment, how testing is performed and more.
Exploring a molecular link between BHD and Tuberous Sclerosis
Tuberous Sclerosis and Birt-Hogg-Dubé Syndrome share some similar features as well as manifestations that are unique to each condition. In this blog, we discuss more.
Is there a Beneficial Role for loss of FLCN in the Liver?
A study by has uncovered a surprising role for FLCN in the liver in the context of fatty liver disease progression. Read this blog to learn more.
Prevalence of BHD – an Epidemiological Study
To determine the prevalence of BHD, researchers from the University of Lausanne conducted a meta-analysis of previously published studies on the prevalence of spontaneous pneumothorax among BHD patients and the general population.
Folliculin: A Regulator of Transcription Through AMPK & mTOR Signaling
In this blog, we take a look at a review which focuses on the role of FLCN in mTORC1 signalling.
A New Role for Folliculin in Preventing Tumour Development
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.
A Rare Condition Disguised as BHD
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.
BHD Summer Case Reports
These two cases include a man who presented to the dermatologist with multiple skin complaints and a woman with a history of recurrent pneumothorax.
Celebrating 1 Year of the BHD Syndrome International Registry
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.
Clinical characteristics of East Asian patients with Birt-Hogg-Dubé
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.
Disruption of Folliculin Induces the Activation of Interferon Response
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.