Research
Scientists across the world are dedicated to researching BHD. They aim to understand BHD so that we can improve care, discover new treatments, and even find a cure.
On this page, we share some of the research we are funding into BHD. It includes interviews with our scientists and regular updates on their progress.
Our scientists are not the only ones researching BHD. We also feature new research on our News Page and in our Newsletter.
If you are a researcher and interested in research into BHD, visit our researcher page.
How common is BHD?
We are funding a study that aims to find out how common BHD is in the UK. Project lead, Professor Stefan Marciniak, hopes that the results of this study will raise awareness of BHD.
Improving care for people with BHD in the Netherlands
We are funding a project that aims to further understand the risks of cancer in BHD and to raise awareness of BHD among other doctors.
Investigating a FLCN-related disorder
We have around 20 000 genes and most of them are found in two copies. In BHD, one of the copies of the FLCN gene does not work properly. Dr Fulya Taylan is investigating if there is a new disease where both copies of the FLCN do not work.
Understanding the Skin
Our understanding as to why skin bumps called “trichodiscoma” and “fibrofolliculoma” develop in BHD and what makes them grow is incomplete. We are funding a project that plans to address these questions.
Why do people with BHD get kidney cancer?
BHD is caused by a mutation in the FLCN gene. We are funding a project that aims to explain how FLCN deficiency leads to Kidney Cancer.