At the BHD Foundation we are passionate about driving research into Birt-Hogg-Dubé syndrome (BHD). Through the Myrovlytis Trust, we have funded over £6 million of research into BHD since 2007. We are now pleased to announce the first 2 projects we funded in 2022.
Understanding how Kidney Cancer in BHD develops
We awarded funding to Professor Masaya Baba (Kumamoto University, Japan) for a PhD scholarship to investigate BHD kidney cancer. BHD is associated with changes in the gene folliculin (FLCN). Everyone has 2 copies of the FLCN gene, however changes in only one of them gives rise to many of the features seen in BHD. However, for kidney cancer to develop it is thought that changes in the second copy of FLCN are required (often known as a “second hit”). Masaya’s team will investigate what happens in cells lacking FLCN. They will identify pathways and specific proteins that are essential for cells lacking FLCN to survive and form tumours. In the longer term, these proteins could be targets for the development of new therapies to treat kidney cancer in BHD.
Watch Masaya describe his work in this short video or find out more. A transcript of the video is also available.
Natural Killer Cell Therapy for Kidney Cancer
Our second grant holder, Professor Mark Lowdell (University College London, UK) is interested in the interplay between the immune system and cancer. His group have a particular focus on a type of cell called natural killer (NK) cells. These can directly kill target cells, including cancer cells. However, many cancers develop strategies to avoid recognition by the immune system. Mark’s group have developed a drug to activate NK cells to make them better at killing cancer cells. We have awarded funding to Mark’s team for a 1-year project looking at whether people with kidney cancer have NK cells that can be enhanced with this drug. They hope to identify which patients will benefit most from this drug and use the data to design and support a clinical trial. Although this project isn’t looking at kidney cancer in people with BHD, we are still excited by the prospect of a new type of treatment for kidney cancer. Future work could be done to look at this type of treatment in BHD kidney cancer.
Watch Mark describe his work in this short video or find out more. A transcript of the video is also available.
At the BHD Foundation we are driven to find new treatments and eventually a cure for BHD. We have just launched our grant funding round for 2023. Find out more including what we fund and how to apply. We also welcome informal enquiries by email.