BHD Community Symposium 2022 Report – Research

The first BHD Community Symposium was held on October 8th, 2022. We were delighted to have over 200 people registered from 22 countries across 5 continents for this virtual event. This year’s symposium was the first deliberately designed to be accessible to all members of the community throughout the entire event. We were thrilled to welcome people with Birt-Hogg-Dubé syndrome (BHD) and their families alongside clinicians and researchers.

There were a range of sessions from the latest research to a Q&A with BHD experts. We also held a session with members of the BHD community sharing their personal BHD stories. The opening talk featured our CEO, Anna Webb, in conversation with Sue Sherman, Director and CEO of the LAM Foundation. They spoke about the shared challenges faced by communities in the rare disease space and the importance of the patient voice when tackling them.

…it’s the voices, as we know, of our communities that really are vital to the progress of both research as well as improving treatment from rare diseases.” Sue Sherman

Raising awareness, connecting the community and inspiring the next generation of scientists were topics for discussion. There are so many things we can learn from other rare communities, but it is important to remember we are not alone. We need to work with other advocacy organisations such as the LAM Foundation to build our network and drive change. This conversation was a positive and inspiring way to start the symposium and we are extremely grateful to Sue for joining us.

BHD Research Updates

There were several sessions dedicated to the latest BHD research. To kickstart this session, we heard from Julia Thierauf, BHD community member, clinician and researcher. She gave an overview of the scientific process and how research works. Following on from this, we heard from some of our 2021 grant holders as well as researchers from around the world.

Understanding BHD

Many talks were focused around better understanding BHD as a condition and how it affects people. Bryndis Yngvadottir (UK) gave us an update on their work trying to better estimate the prevalence of BHD. BHD is associated with variations in the gene folliculin (FLCN). Looking at how many people have a FLCN variant can help us work out how common BHD is. Rates from the literature vary from around 1 in 3000 people to 1 in 500,000 people. The work presented here, looking at the 100,000 genomes project suggested that the prevalence of BHD may be closer to the 1 in 3000 people estimate.

Lore van Riel (The Netherlands) presented the need to raise awareness of BHD among doctors to improve diagnosis. BHD is the most common genetic cause of a collapsed lung. In people that have a collapsed lung for no obvious reason, BHD should be considered, especially if there is a family history. We also heard from Ortrud Steinlein (Germany) about the delay between first symptom appearance and diagnosis in BHD. We recently blogged about her work and how gender might affect diagnosis.

Liu Jie discussed their work in China to improve BHD diagnosis. They found the most common symptom was a collapsed lung. Very few people had symptoms in the skin or kidney. However, another study from a rare lung clinic in China showed a higher number of people with skin symptoms. More work needs to be done to understand any difference in symptoms between different ethnicities. A talk from Fiona Bruinsma (Australia), looked at the proportion of people with each symptom of BHD. They found that by age 70, over 9 in 10 people had symptoms in the skin and/or lungs.

Together, these projects will help us better understand how people are affected by BHD and inform diagnosis and management pathways.

Understanding Folliculin

It is vital to understand the cellular biology behind BHD. There is a lot of work being done to understand the biology of FLCN and how a loss of FLCN leads to the symptoms seen in BHD.

We heard from Ryosuke Jikuya (Japan) and Ye Yang (USA) who are both using state-of-the-art methods to look at kidney cancer in BHD at the molecular level. Their work will help us understand more about how kidney cancer develops and grows. It will pave the way for future work to develop new therapies for BHD-related kidney cancer. 

Damir Khabibullin (USA) spoke about their work looking at FLCN in the lung. Their data shows that loss of FLCN in lung cells called mesenchymal cells led to the formation of lung cysts. Understanding how lung cysts form could help inform future treatments for the lung.

Rob Wolthuis (The Netherlands) presented research identifying a new BHD-like syndrome. Their work identified the gene responsible for this new syndrome and found that it was a regulator of FLCN protein. This work expands our knowledge of how FLCN works in our cells as well as identifying a new condition related to BHD.


Research was also presented on the treatment of BHD-related kidney cancer. Currently, the standard treatment is for any tumours to be removed by surgery when they reach 3 cm. However, there are some situations where surgery may not be appropriate. Sylvain Bodard (France) presented their work using a technique called percutaneous thermal ablation for the treatment of kidney cancer. They found this to be a safe and effective treatment for BHD-related kidney cancer.

We also heard from Dustin Armstrong (USA) who spoke about a new drug that may have benefit in treating BHD-related kidney cancer. This drug has already been tested in another condition called Pompe disease and has been found to be safe. They are now interested in pursuing research and collaborations to test their drug in BHD.


It is exciting to see the breadth and depth of research happening around the world into BHD. We were thrilled to be able to bring this research to the entire BHD community.

“The research talks were fascinating, highly informative and gives us all a lot of hope that significant advances are being made towards finding a cure and towards optimal management of BHD.”  Feedback from BHD Community Symposium attendee

Connecting all parts of the community is at the heart of the BHD Foundation. There is so much we can learn from each other, and it was heart-warming to be able to share different perspectives.

“I am getting to see patient perspectives for the first time, and simultaneously saw great cutting-edge research results. This leaves me with a lot of hope that we will one day soon be able to treat all patients efficiently, successfully with minimal invasive procedures.”  Feedback from BHD Community Symposium attendee

Our blog post next week will round-up our BHD Community Symposium report, focusing on the ‘Meet the Expert’ and ‘BHD and Me’ sessions.

If you registered for the event but couldn’t attend on the day, a recording of the event will be sent as soon as it is available. You can also still take part in the BHD raffle that was launched at the symposium. To receive the latest updates about events, sign up to our newsletter.

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