Driving research, providing support and improving outcomes for patients and their families affected by rare conditions

A week is a long time in politics, 3 months is a long time when we are cut off from society in covid times, and a year is…. just about enough time to reinvigorate a charity and embark on a new era it seems. 

In January 2021, I had the great honour to be appointed as Director of The Myrovlytis Trust (www.myrovlytistrust.org), a medical research charity dedicated to rare diseases. The Trust had been quiet for a few years, but with a history to be proud of.  Since its inception, the Myrovlytis Trust Trust has had a long-standing commitment to progress in the rare disease Birt-Hogg-Dubé Syndrome (BHD). Over £6 million in research grant funding had been issued, a clinical trial funded and a dedicated website (www.bhdsyndrome.org) had been formed.


Armed with the previous experience and success, the team at the Myrovlytis Trust set about reinvigorating the charity. Our first port of call was to re-establish relationships with BHD families, clinicians and researchers. Weekly blog posts, monthly newsletters, patient interviews and regular “Meet the Expert” events online followed, allowing us to form these vital bonds. We also produced a special BHD video, explaining the syndrome for those newly diagnosed and raising awareness of this relatively unknown condition (www.bhdsyndrome.org). In October, we held the first virtual BHD Symposium to discuss scientific and medical progress, form new collaborations and importantly, to involve patients at every step. Over 300 attendees enjoyed a thoroughly enlightening two days (read the conference report here). At the end of 2021, we were delighted to announce our first grant awardees (currently funded research), working on projects to untangle the known and unknown manifestations of this condition. 

Expanding our remit

Given our experience building and nurturing the BHD community, and touched by a very personal story of an adolescent close to our hearts with the rare cancer osteosarcoma, we decided to expand our remit. Osteosarcoma is a rare cancer affecting the bone. Chemotherapy regimes for this disease haven’t advanced in many decades, and the treatment options for those with metastatic disease (where the cancer has spread beyond the original site to other organs) are limited. There is a clear unmet clinical need for new therapies, and it seemed an obvious avenue for us to explore.  

Our work in osteosarcoma commenced in 2021, with many months dedicated to talking with experts, patients and other charities. There is amazing work ongoing in research and support, and we refined our goals to reflect the unique work we can offer to advance the field. Firstly, we will fund research with a clear clinical focus – to bring new therapies to patients as soon as possible. Secondly, we are working on a new website, Osteosarcoma Now, to be launched in spring 2022. This website will feature blog posts explaining scientific breakthroughs in clear, accessible language, a worldwide map of organisations ready to help patients, and importantly the first international clinical trials database dedicated to osteosarcoma, with all the scientific and medical information curated into a patient-friendly format. We want Osteosarcoma Now to be a place where patients can visit to learn about the science, find potential new therapeutic options and discover the support available worldwide. 

None of the above achievements would have been possible without our fantastic team, our refreshed and expanded Scientific Advisory Board and our wonderful new Trustees. With all policies and procedures updated we feel ready for the adventures ahead. 

By focusing on one rare genetic disorder (BHD) and one rare cancer (osteosarcoma), we hope to build a blueprint for rare diseases, in time expanding to help with other conditions. We are a charity on an exciting journey, and after a whirlwind year of progress I feel we have a lot to be proud of. Here’s to more in 2022!