May 2021 Newsletter


Hello Everyone. It has been a busy month at the BHD Foundation. After the success of the first Meet the Experts event we have been busy planning for the next virtual meeting in June. We have also been working on an exciting new project, a BHD explainer video, to educate and inform patients, families, and clinicians about BHD. We will be unveiling it very soon so watch this space!

Community News
The BHD Community
The BHD Facebook group is a patient led forum for members of the BHD community to share their stories, knowledge and ask for advice in a safe and friendly space. The core BHD Facebook group was set up in 2012 and now has over 2000 members. All members from the BHD community including family and friends are welcome to join the group.

There are also several country specific groups. Anna from Sweden said ‘I felt very alone when I first got diagnosed with BHD. The community has given me a sense of belonging and a connection with other people knowing what it´s like to live with BHD...The Swedish group is small but sometimes it’s nice to be able to speak mother-tongue about those things close to your heart, or if you are looking for a doctor’.

Further details about the BHD Facebook groups are available below.
Birt Hogg Dube Syndrome (core Facebook group)
Birt Hogg Dube Syndrome in Australia
Birt Hogg Dube Danmark
BHD France
Birt Hogg Dubés-syndrom Sverige
Please contact us at if you would like your group included in the next newsletter.
Patient Story
This month J shared her BHD story from diagnosis to surgery and we discussed the importance of raising awareness.

Read J’s story here now. The text is written in both English and French (J’s first language).
Get Involved
Meet the Expert
Following the success of our last Meet the Experts session, we are excited to announce that we are hosting another Meet the Experts virtual event on Wednesday 23rd June at 7:30 pm BST (British Summer Time). Stefan Marciniak is a Professor of Respiratory Science at the University of Cambridge and Honorary Consultant at Addenbrooke’s and Papworth Hospitals and has a particular interest in the genetics of pneumothorax. Stefan will be sharing his insight and answering your questions about one of the main symptoms of BHD, pneumothorax!

Sign up now for the event:

If you are unable to attend the event, we will be recording it and posting it on our webpage.
Rare Disease Webinar
Indo-US Organization for Rare Diseases is holding a virtual talk ‘Clinical Trials: The Hope to Cure Rare Diseases’ on Friday 28th May at 4pm (British Summer Time).
Mohamed Duklef, who has a rare skin condition called Epidermolysis Bullosa, will be sharing his story and talking about the importance of clinical trials.
We will be attending the event and reporting the highlights back to you.
IndoUSrare Webinar - Clinical Trials: The Hope to Cure Rare Diseases Tickets, Fri, May 28, 2021 at 11:00 AM | Eventbrite
Healthcare Professional Database
A big thank you to everyone who has contributed to our expanding BHD healthcare professional registry. The questionnaire is still open so please let us know if there is a BHD healthcare professional who you would recommend.
Take the Survey
Science News 
Further Functions of Folliculin
Folliculin has many roles throughout the body and we are still uncovering why it causes the symptoms of BHD when mutated. We summarised two recent papers on the molecular functions of folliculin:

Wang et al., recently published a paper suggesting a new role for folliculin in iron homeostasis. They demonstrated that folliculin was involved in the recycling of the protein TfR1, which binds and transports iron into cells. Read our blog here.  
The full article is freely available here.

Endoh et al.,
published a paper looking at the effect of folliculin on glycogen, which stores energy in the body. They found that the loss of folliculin caused glycogen to accumulate in lysosomes and prevented phagocyte activation.  Read the guest blog now. The full article is freely available here.
Clinical Research
The clinical characteristics of East Asian patients with BHD
The symptoms of BHD have been widely described in Europe and the United States.  However, studies suggest that BHD characteristics are different in the East Asian population. Guo et al., published a paper which showed that the most common symptom in the BHD East Asian population was pneumothoraces. Read our summary of the paper here. The full paper is freely available  here.
Prevalence of BHD
A recent study by Muller et al., conducted a meta-analysis of previously published papers to estimate the prevalence of Birt-Hogg-Dubé Syndrome based on the prevalence of pneumothorax among individuals with BHD and the general population. Using a statistical method called Bayes theorem they estimated the prevalence of BHD to be around 2 per million. For more information, read our blog and the freely available paper.
Next month our focus will be BHD and the lungs!
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