March 2021 Newsletter

Hi Everyone

March has flown by and this month we have successfully restarted our weekly blog posts, raised awareness of kidney cancer in Birt–Hogg–Dubé syndrome (BHD) and are preparing for our Meet the Expert virtual talk this April.

In this newsletter we share with you some of the highlights from this month, upcoming events and the latest BHD science news; this month the focus is on Folliculin.

Community News
This month we celebrated World Kidney Day, raising awareness of kidney cancer in Birt–Hogg–Dubé syndrome.

Approximately 30% of BHD patients develop kidney cancer at an average age of 50. These cancers are normally slow growing and only require surgical intervention when greater than 3cm long. Therefore, with careful surveillance the outcome is usually good. It is essential that we raise awareness of BHD syndrome so that the associated kidney cancer is correctly diagnosed, monitored, and treated.

Claudia a member of the BHD community shared her experience being diagnosed with kidney cancer and BHD. Click here to read Claudia’s story.

The European International Kidney Cancer Symposium
Registration for the virtual 2021 European International Kidney Cancer Symposium is now open. On the 23rd-24th April clinicians, researchers and industry professionals will come together to share their ideas and discuss current and new treatments for kidney cancer.

Patient Advocate rate is €50. We will be attending and will report key information back to you.

Find out more about the symposium, see the agenda and register for the event.

One Cancer Voice: Joint statement from 47 UK cancer charities
With a substantial backlog of cancer tests and treatments, getting cancer services back to pre-pandemic levels is simply not enough. So we have joined with 46 other cancer charities to call on the UK and devolved governments to restore and transform cancer services.  #OneCancerVoice 
You can download the joint statement below.

Wherever in the world you are we would be interested in finding out about how the COVID-19 pandemic has affected your cancer or routine care. Please email us at with the subject line 'My care during COVID' if you would like to share your experience.
Get Involved
Meet the Expert
Virtual Event Thursday 22nd April 7:30pm BST

We are excited to announce that genetic counselor Lindsay Middelton will be our first BHD expert.

Lindsay Middelton has over 25 years of experience in counseling and genetic assessment of patients with familial renal cancers including Birt–Hogg–Dubé syndrome. She will be sharing her experiences and answering your questions about BHD and genetic counseling.

Sign Up Now
Symptoma- Digital Health assistant
Symptoma is an online symptom checker which helps to find possible medical causes for symptoms and has the potential to help aid the diagnosis of Birt–Hogg–Dubé syndrome and other rare diseases.  To measure and improve the accuracy of Symptoma and reduce misdiagnosis of rare diseases the Symptoma team have a created a questionnaire for people with rare conditions to complete. The data will be anonymous, and the accuracy results will be scientifically published.   Learn more about Symptoma here.
Take the Questionnaire
Can you help us expand our registry of BHD healthcare professionals?
We are currently updating and expanding our registry of healthcare professionals across the world who have knowledge of BHD. The aim is to have a comprehensive resource that allows you to easily find your nearest BHD doctor. We would love your recommendations. If you have seen a healthcare professional with experience of BHD and would recommend them to others, please complete the below survey.

You will be able to add the details of up to two healthcare professionals on the survey but can complete the survey as many times as you want.
Take the survey now
Share your experiences 
We are keen to interview you about your experiences with BHD. If you are interested in taking part in a video or written interview, which will published on our webpage and highlighted on social media please email with the subject line ‘Interview’.  

Science News - Focus on Folliculin 
BHD is caused by a mutation in a gene called Folliculin. Folliculin is thought to be a tumor suppressor gene, meaning it is involved in preventing uncontrolled cell growth. However, its mechanism of action and role within the body is not fully understood. Understanding how folliculin works is essential in our efforts to develop new treatments for BHD. Below we discuss two recent scientific studies looking at the function of folliculin and assess the clinical significance.
A recent research paper published in Denmark, looks at how certain folliculin variants are targeted for proteasomal degradation and the clinical significance of this. Read our recent guest blog summarising this study here!

Find the full article here.

A recent study by Glykofridis et al., investigated the effect of loss of folliculin in an in-vitro model for human kidney cancer. They discovered that several interferon responsive genes were upregulated and transcription factor, TFE3, was activated. This resulted in increased expression of genes involved in lysosome function and autophagy. Read a summary of this article here.
The full article is freely available here.

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