Thanks to Team FD and the 7 campaigns that raised funds to support FD/MAS research, two researchers will receive $53,614 to study this rare disease. If you raised funds or donated to a campaign, you should be especially proud. The progress we make next year will be directly because of your efforts.
As scientists prepare their applications for these two FD/MAS focused grants, we thought we’d catch up with last year’s awardee, Dr. Mara Riminucci, to learn more about her research and goals.
Q:What made you interested in studying FD/MAS?
A: I became aware of FD/MAS about 20 years ago while collaborating with Dr Paolo Bianco and Dr Pamela Robey. The collaboration gave me the opportunity to analyze some histological samples from a small cohort of FD patients. I became very interested and committed when we realized that FD is a disease emanating directly from the skeletal progenitor cells, which are the major focus of my research activity. I think that to study the histopathology of FD lesions is important for FD patients and, more in general, to improve our knowledge of the skeletal biology, physiology and pathology.
Q:What is the ultimate goal of your research? How will it benefit patients?
A: Our studies have two main goals. On the one side, we are trying to identify which cell types in the bone are involved in the development of FD lesions. This is fundamental in order to develop specific and effective therapies for FD patients.
One of our new, unpublished transgenic models has recently provided some important preliminary data on this issue. On the other side, we are analyzing the effect of specific inhibitors of bone resorption, in particular an anti-RANKL antibody, on the development and progression of FD lesions. Based on our results, it seems that this approach may be translated into a therapy for FD patients in the near future.
Q:What has to be accomplished to reach that goal? (essentially, what are the next steps between the current project and a change in patient experience?)
A:In our FD mouse model, the anti-RANKL antibody improves the histological structure and the mechanical strength of the affected bones. In addition, it seems also to prevent the progression of existing lesions and the development of new ones.
The next steps are to define the best schedule of administration (e.g. doses, interval between consecutive doses, etc, work in progress) and to develop an approach for preventing the relapse of the disease after drug withdrawal.
Even though our pre-clinical studies are still in progress, the data obtained so far indicate that the use of anti-RANKL antibody positively affects the histopathology of FD by the inhibition of bone resorption. Indeed, we are preparing a manuscript to communicate these results to the scientific community.