Exciting Research Updates: News from Sapienza University of Rome and UC San Diego

In December 2015, the Fibrous Dysplasia Foundation announced the winners of the 2015 Million Dollar Bike Ride grants.

Dr. Mara Riminucci of Sapienza University of Rome, and Dr. J. Silvio Gutkind of UC San Diego won grants of $58,500 to test therapy strategies on mice engineered to have fibrous dysplasia/McCune-Albright syndrome (FD/MAS), and to study these mice to better understand how the gene mutation that causes FD/MAS leads to the symptoms of the disease.

Since then, these researchers have been hard at work.  Dr. Riminucci and Dr. Gutkind both recently spoke with the Fibrous Dysplasia Foundation, and were excited to share updates from their labs with the FD/MAS community.

The labs independently reported that FD bone lesions are not caused exclusively by the malfunctioning of osteoblasts, the type of cell that produces bone. Instead, the lesions are caused by the interplay of multiple cell types. Both labs have learned already new things about how the GNAS gene leads to fibrous dysplasia (FD) bone lesions. The researchers are closely studying the interactions between the cells involved in creating FD bone lesions, because the more they know about the molecular processes that cause FD bone lesions, the closer they are to identifying how to stop the development of FD bone lesions.

Each lab has started using what they’ve learned about the molecular process that creates FD bone lesions to test ways to interrupt that process. It’s too early to tell if these treatment strategies are working, as the experiments are still in progress.

Dr. Riminucci’s lab observed that the resorption of healthy bone by FD lesions was associated with the strong expression of the osteoclastogenic factor RANKL. Her lab is now exploring whether RANKL inhibition could have an effect on the development and progression of bone lesions.

Dr. Gutkind’s lab is testing whether certain oncology drugs, drugs that are already in use to treat cancer, can interrupt the processes caused by the GNAS gene mutation. These drugs interfere with aspects of tumor initiation and progression.

Both research labs were extremely grateful to be able to work on FD/MAS research, and recognized that their work would not be possible without the efforts of the FD/MAS community.

Dr. Riminucci noted that it is very difficult to find funding to study rare genetic diseases: “Fibrous dysplasia is not the focus of large industrial investments for its low prevalence and for the challenges it poses. Funding opportunities like this are very important to support the research on this disease.”

Dr. Gutkind agreed that funding opportunities like the Million Dollar Bike Ride will be instrumental to finding an effective treatment for FD/MAS:  “In this new era of precision medicine—in which we target the faulty molecules and cells, sparing the healthy ones–FD/MAS is the poster child of a genetic disease caused by a single gene mutation that can be, and will be, treatable soon… Ultimately, the contributions to the Million Dollar Bike Ride will enable breakthrough discoveries, which will accelerate bringing the benefits of this new era of precision medicine to those that so urgently need it now.”

These inspiring updates make it very clear that we must continue to support FD/MAS researchers across the globe.

Thankfully, our 2016 Million Dollar Bike Ride team raised enough money to fund another round of groundbreaking research on fibrous dysplasia/McCune-Albright syndrome. Thanks to Team Captain Cindi Brandt Levin, the FD team fundraisers and the many people who donated, over $70,000 will go to fund a new research project this year.

The Million Dollar Bike Ride is an important annual fundraiser to support rare disease research. The Orphan Disease Center at the University of Pennsylvania matches every dollar raised by Team FD and other rare disease fundraising teams, doubling the power of the funds we raise.

For information about how to join Team FD and support FD/MAS biomedical research, email info@fibrousdysplasia.org.