Driving research, providing support and improving outcomes for rare disease patients and their families



Birt-Hogg-Dubé (BHD) Syndrome

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BHD Syndrome is an inherited genetic condition linked to benign skin growths, collapsed lung and kidney cancers. Since it was founded in 2007, the Myrovlytis Trust has funded research into BHD syndrome, established the BHD Foundation and hosted an annual symposium for researchers, clinicians and patients.

Milestones

Since 2007, we have awarded over £5 million to promote research into BHD syndrome. During this time:
  • The number of researchers studying BHD syndrome has doubled.
  • The rate of publications about BHD has increased at least 5-fold.
  • The Folliculin mutation database was created.
  • A UK BHD patient registry was developed.
  • A global registry for hereditary kidney cancer patients, including BHD, has been developed.
  • A clinical trial testing Rapamycin as a treatment for fibrofolliculomas has been conducted.
  • Gene therapy has been used to successfully reinstate FLCN function in vitro.
  • Folliculin has been found to function in a number of signalling pathways and biological processes.
  • Specifically its role in mTOR and HIF signaling link BHD syndrome to other genetic kidney disorders such as VHL, TSC, HLRCC and SDH.
  • The structure of Folliculin’s C-terminal domain has been solved, and suggests a role for Folliculin in membrane trafficking.
  • Six more binding partners of Folliculin have been discovered.
  • There are now eight animal models for BHD
  • The annual BHD Symposium was launched and more than 100 researchers, patients and clinicians attend.

BHDSyndrome.org

  •  A fundamental part of the Myrovlytis Trust’s work to support the BHD community is BHDSyndrome.org, the primary reference for BHD online.
  • BHDSyndrome.org offers a number of creative and useful resources to inform, empower and build up the BHD community, such as interviews with researchers and people affected by BHD, and BHD Worldwide, an interactive map where users can post their locations. It is directed towards families affected by BHD as well as researchers and health professionals.
  • BHDSyndrome.org was created in partnership with the BHD Family Alliance.

Project Support

We support projects that cover the range of understanding BHD syndrome, from basic research to therapeutic development.

Researchers are currently investigating the biochemical processes in which Folliculin is involved and learning about its structure to understand the function of Folliculin.

Research is ongoing to identify drugs to treat symptoms of BHD syndrome. Many of the investigators we work with are also involved in clinical research, such as analysing the risk of renal cancer.

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Research Community

The Myrovlytis Trust

is commited to fostering communication between the often separate spheres of researchers and patients. We have both written and video interviews with leading researchers in BHD syndrome. The researchers not only explain their projects and describe interesting future areas of investigation, but also offer a personal perspective of working in science and medicine. See the Video Interviews.

Symposia

A cornerstone of the Myrovlytis Trust’s commitment to communication and collaboration is the BHD Symposium, which the Myrovlytis Trust sponsors and helps to organise. Enabling researchers from around the world to get together to chat, share information and brainstorm future projects is one of the main aims of our work.

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