This past week, the UPenn Medicine Orphan Disease Center awarded the much anticipated 2017 Million Dollar Bike Ride research grants. These awards are highly competitive and provide funds for research proposals to investigate fibrous dysplasia and McCune-Albright syndrome (FD/MAS).
Thanks to Team Captain Cindi Brandt Levin and six other successful campaigners, this year the FD/MAS community raised $107,228 to support cutting edge research. “I am thrilled that these two incredible research grants were awarded which will help bring us closer to our goal of finding better treatments and ultimately a cure,” said Brandt Levin.
This year’s FDMAS Research awardees are
Dr. Mara Riminucci of Sapienza University of Rome’s “Exploring the therapeutic potential of RANKL inhibition in Fibrous Dysplasia of bone: studies on murine transgenic models of the disease.”
Dr. Yingzi Yang of Harvard School of Dental Medicine, of Boston’s “Mechanistic and Therapeutic Studies of Fibrous Dysplasia in a New Mouse Model.”
Those who attended or listened to Dr. Riminucci’s presentation at the recent Patient and Family Conference will be familiar with the promising advancements in her lab. “It was an honor to present at the conference and to meet patients personally. Hearing from patients helped me understand better what it’s like to deal with FD in the everyday life,” said Dr. Riminucci. As she shared at the conference, she will continue studying whether administrations of an anti-RANKL antibody can prevent, slow or reverse progression of FD in mice genetically modified to replicate FD. The early results of Dr. Riminucci’s experiments, funded by previous Million Dollar Bike Ride grants, have showed an increase in bone mass, an increase in bone formation, and blocked bone resorption. While undergoing treatment with the anti-RANKL antibody, mice developed no new lesions or bone deformities! However when treatment stopped, so too did these benefits. This grant will let Dr. Riminucci continue to explore these exciting findings and continue preliminary experiments on different administrations of the drug.
Dr. Yang’s project will also explore the cellular and molecular mechanisms of FD and MAS through a mouse model, but will be exploring a new and different strategy to interrupt the disease. Dr. Yang’s study will examine whether inhibition of the Wnt/B-catenin signaling pathway and PKA signaling pathway could treat FD bone lesions. Those pathways are overactive because of the GNAS mutation that causes FD/MAS. Inhibiting the overactivity could stop or treat FD symptoms, including bone pain. Dr. Yang has recently developed a novel mouse model that mimics the mosaic expression of the GNAS mutation seen in human FD and MAS patients. Dr. Yang will conduct experiments on the new mouse model to study the role of those overactive signaling pathways in the development of FD lesions, and identify what happens to bone cells, bone formation, and bone pain when that overactivity is brought down to a lower level. “This grant provides essential funding for us to support the mouse costs and part of the salary of a postdoctoral fellow who will be working on the project,” said Dr. Yang.
These proposals were among many study proposals considered by the Scientific Advisory Council for these esteemed grants. Scientific advisers reviewed each proposal’s potential and helped identify the most promising proposal. “I hope we can raise even more for 2018 so that we might fund some of the other other dedicated researchers who also had promising proposals,” said Brandt Levin, who is the chair of the FDF’s Research Committee and works alongside the Scientific Advisory Council.
The funded projects are extremely promising, and the FD/MAS community should feel great hope that such talented and determined researchers are working on treatments for FD/MAS. “Unfortunately, the proposals that went unfunded were extremely promising as well,” said Deanna Portero, FDF’s Executive Director, “On behalf of the FD/MAS community, I am so very grateful to all of the researchers who submitted projects for funding, and I’m heartbroken that we couldn’t fund them all. Like the chair of our Research Committee, I hope that we can make more funds and more grants available next year.”
FD/MAS does not have any FDA-approved treatments, but many researchers are optimistic that this could change soon. Continued support of promising research proposals such as Dr. Yang’s and Dr. Rimmunici’s help the FD community advance toward that goal.
These projects were funded through small donations from our community: FD/MAS patients, and friends and family. We are grateful to those campaigns: Cycle for Lauren, Cycle for Jack, Cycle for Carly, FD Warriors Bike Ride, Cycle for Rylan, Bike to Best FD, and Coos for a Cure. These research projects are only possible because of these amazing advocates and the hundreds of donations their campaigns received.
You can act today to support promising ideas from scientific researchers. Donations to the Fibrous Dysplasia Foundation support important research programs, including the Million Dollar Bike Ride. Click here to donate to the Fibrous Dysplasia Foundation.