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

Birt-Hogg-Dubé
(BHD) Syndrome

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Birt-Hogg-Dubé Syndrome (BHD) is an autosomal dominant disorder caused by a mutation in a gene called Folliculin. Folliculin is thought to be a tumour suppressor gene meaning it regulates cell growth and proliferation. When mutated it loses this function. Currently 600 families are known to carry the mutation although its prevalence is expected to be far greater.

BHD causes lung cysts, pneumothoraces, benign skin lesions (fibrofolliculomas) and about 30% of patients will develop kidney cancer. The kidney cancer is slow growing and rarely metastasizes. Patients require surgical intervention to remove the tumours once they are greater than 3cm in diameter.

Other than treating each symptom individually, which often reoccur, there is no current cure for BHD.

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. You can download a timeline of our progress here.

Milestones

Research

We support projects that cover the range of understanding of BHD, 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. Many of the investigators we work with are also involved in clinical research, such as analysing the risk of renal cancer.

Myrovlytis Trust funded research on BHD

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BHDSyndrome.org

  •  A fundamental part of the Myrovlytis Trust’s work is to support the BHD community.
  • We established the BHD Foundation in order to foster this relationship and created 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.

BHD Community

We are committed to fostering communication between the often separate spheres of researchers and patients. We have both written and video interviews with leading researchers in BHD. 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.

We run bi-monthly “Meet the Experts” online events, where patients can hear from and ask questions of experts in BHD. These events range from advice to current research to clinical applications, further fostering our BHD community.

We produce monthly newsletters, distributed electronically to members of the BHD community, and blog about the latest research relevant to the field. To receive the newsletter and join the BHD community, please register here.

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.

Impact

Patients are at the heart of everything we do. We are proud to be working with the BHD community to provide support, advice and advance knowledge of BHD.

‘For me Meet the expert was a valuable meeting. Not just because of the information given, but I felt a sense of belonging’. DL Netherlands

‘I really appreciated the presentation today, thank you for making it so accessible! …I feel really lucky to have attended! I have passed on the notice about the June presentation to the BHD-side of my family.’ CK USA

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