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.
Early Career Profile: Rare Disease PhD Researcher Jennifer Heritz
In this blog, we talk to Jennifer about her goals for working in the rare disease research field, what she loves about her job and more.
Is Scuba Diving Safe with Birt-Hogg-Dubé Syndrome?
Whilst scuba diving for many people can be a thrill-seeking experience, there are several risks to be considered if you have BHD, and it is important to be aware of and consider recommendations from clinical experts to keep yourself safe.
How lung cysts progress in BHD: A long term patient study monitoring l
December blog on How lung cysts progress in BHD: A long term patient study monitoring lung cyst growth
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.