These important seed grants pave the way for new, innovative research to investigate fibrous dysplasia and McCune-Albright syndrome (FD/MAS).
Million Dollar Bike Ride Research Grants
Every year the University of Pennsylvania Orphan Disease Center (ODC) provides one-year grants to support research related to a rare disease that is represented in its Million Dollar Bike Ride (MDBR). Team FD/MAS has been participating in the MDBR since 2015. These important seed grants pave the way for new, innovative research to investigate fibrous dysplasia and McCune-Albright syndrome (FD/MAS). The number of awards and dollar amounts vary per disease based on fundraising totals by each disease team. Currently, the ODC matches up to $30,000 that any team raises for the MDBR, as long as it raises at least $20,000. Each dollar donated to the MDBR grants goes directly to FD/MAS research.
In this unusual year — with an all “virtual” event — Team FD/MAS led by Team Captain Cindi Brandt Levin, along with the ODC matching funds, raised more than $60,000 to support FD/MAS research. As part of this campaign, Team FD/MAS raised an additional $5,000 directly for the FDF to support the organization’s research initiatives. Team FD/MAS was especially grateful to Aurélie Lagneau and Association MASFD out of France, which donated $20,000 to launch the campaign, and to Dr. Andrew Shenker from our Scientific Advisory Council, who also raised over $7,000. The winner of the grant will be announced this winter.
Team FD/MAS led by Team Captain Cindi Brandt Levin, Adrianna Cannone, and the Beaman Family Foundation, along with eighteen other community campaigners and $30,000 in matching funds from ODC, raised more than $109,000. This meant that two winners received more than $54,500 in grants to pursue their research proposals. These grants were awarded to:
Dr. Yingzi Yang, PhD, Harvard School of Dental Medicine. Dr. Yang’s proposal, Mechanistic and Therapeutic Studies of Fibrous Dysplasia Craniofacial Defects, will focus on craniofacial fibrous dysplasia. Her project aimed to find a way to reduce fibrotic overgrowth and promote normal craniofacial/maxillary bone ossification.
Dr. Julia Charles, MD, PhD, Harvard Medical School. Dr. Charles’ proposal, Do Osteoclasts Mediate Bone Marrow Fibrosis in Fibrous Dysplasia? Examined osteoclasts, the cells that break down bone, and their relationship to osteoblasts, the cells that form bone? examined osteoclasts, the cells that break down bone, and their relationship to osteoblasts, the cells that form bone.
More information about the 2019 MDBR grants can be found here.
Team FD/MAS led by Team Captain Cindi Brandt Levin, and 11 campaigners in the FD/MAS community raised more than $272,000. This included $50,000 in matching funds from ODC and an additional $10,000 in matching funds from the Hertrich Family of Auto Dealerships in Milford, Delaware. Because of their efforts, four winners received research grants of more than $68,000 to help bring scientists closer to finding an effective treatment for FD/MAS. Highlights of this incredible fundraising effort by our community can be found here.
These research grants were awarded to:
Dr. Charles Hoffman, PhD, Boston College. Dr. Hoffman’s proposal, titled Identification and Characterization of Novel Cell-Permeable, Small Molecule Adenylyl Cyclase Inhibitors for Future Development as Drugs to Treat FD/MAS, focused on identifying and testing new compounds for future FD/MAS drug development. Dr. Hoffman talks about his project here.
Dr.Fernando Fierro, PhD, University of California, Davis. Dr. Fierro’s proposal, titled Single Cell Transcriptome Analysis of Skeletal Stem Cells Derived from FD/MAS Patients, isolated skeletal stem cells (SSC) from FD/MAS patients to learn how they differed from SSC derived from healthy donors.
Dr. Kelly Wentworth, PhD, University of California, San Francisco. Dr. Wentworth’s proposal, Elucidating the Role of GNAS Mosaicism in Fibrous Dysplastic Lesions, examined which specific combination of healthy and mutant cells of different cell types result in the development of FD bone lesions. She talks about her project here.
Dr. Mara Riminucci, MD, PhD, Sapienza University of Rome. Dr. Riminucci’s proposal, Anti-resorptive drugs in fibrous dysplasia of bone: studies on the effects of a RANKL inhibitor and Zoledronic Acid in a murine model of the disease by radiography, histology, and genome-wide expression analysis (NanoString), continued her work on the development of therapies for FD/MAS through experimentation on mouse models. Dr. Riminucci talks about her research here.
More information about the 2018 MDBR projects can be found in our Spring 2020 update with researchers here.
Team FD/MAS led by Team Captain Cindi Brandt Levin, and six other successful campaigners, along with matching funds, raised $107,228 to support FD/MAS research. From this amount two grants of $53,614 to:
Dr. Mara Riminucci, MD, PhD, Sapienza University of Rome. Dr. Riminucci’s proposal, Exploring the therapeutic potential of RANKL inhibition in Fibrous Dysplasia of bone: studies on murine transgenic models of the disease, continued studying whether administrations of an anti-RANKL antibody could prevent, slow or reverse progression of FD in mice genetically modified to replicate FD.
Dr. Yingzi Yang, PhD, Harvard School of Dental Medicine. Dr. Yang’s proposal, Mechanistic and Therapeutic Studies of Fibrous Dysplasia in a New Mouse Model,” examined whether inhibition of the Wnt/B-catenin signaling pathway and PKA signaling pathway could treat FD bone lesions.
More information about the grants can be found here.
Team FD/MAS led by Team Captain Cindi Brandt Levin and the FD/MAS community raised $74,000 to support research for FD/MAS treatments. The grant was awarded to Mara Riminucci, MD, PhD, Sapienza University of Rome.
Dr. Mara Riminucci, MD, PhD, Sapienza University of Rome. Dr. Riminucci’s proposal, Transgenic models of fibrous dysplasia and models of intervention, aimed to understand the excess bone resorption and defective bone matrix mineralization that lead to bone fractures and deformities in FD patients. More information about the 2016 research grant can be found here.
This was our first year participating in the Million Dollar Bike Ride. We were led by Team Captain Cindi Brandt Levin. The fundraising of Team FD/MAS resulted in two grants of $58,500. More information about the first MDBR event can be found here. The two awards went to the following FD/MAS researchers:
Dr. J. Silvio Gutkind, PhD, UC San Diego. Development of Next-Gen Animal Models for Fibrous Dysplasia(FD)/McCune-Albright Syndrome(MAS). Dr. Gutkind’s project will develop a new mouse model. The new mouse model will develop symptoms sooner than other mouse models, so research can be conducted more efficiently. Dr. Gutkind will use the new, “next-gen,” mouse models to study FD/MAS progression, and test potential therapies.
Dr. Mara Riminucci, MD, PhD, Sapienza University of Rome. Riminucci’s proposal, Mouse Models of Fibrous Dysplasia as a Tool for Developing Rational and Effective Therapies, and Gutkind’s proposal, Development of Next-Gen Animal Models for Fibrous Dysplasia(FD)/McCune-Albright Syndrome(MAS), tested therapy strategies on mice engineered to have 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.
The scientists gave updates on their research here.
Other FD/MAS Alliance-Supported Research
Association MASFD Gives $60K Research Gift with Support from FDF
Fibrous Dysplasia Foundation’s collaboration with Association MASFD has funded a study to understand the central nervous system manifestations of McCune-Albright Syndrome. The Association MASFD made a $60,000 donation to University of Iowa neuroscientist, Ted Abel, PhD. Funding of Dr. Abel’s project, A Murine Model for the Central Nervous System Manifestations of McCune-Albright Syndrome, is expected to help researchers understand why some patients with fibrous dysplasia and McCune-Albright syndrome are affected by cognitive or behavioral issues. More information about the research can be found here.
FDF Supports a Tier III Pipeline-to-Proposal Project
The Patient-Centered Outcomes Research Initiative in Washington, DC, once again awarded funds to the FDF-supported project to advance comparative effectiveness research (CER) about FD/MAS treatments. The project, Bridging Rare Disease Patients and Data through Novel Research Partnerships, is committed to building an online hub to support patients and the community that serves them with tools and relevant information to support CER in the future.
This was the final step in a three-tiered process of designing and launching a patient-centered research study. During Tier III, FDF President Catherine Fairchild, President-Emeritus Amanda Konradi, PhD, Andrea Burke, DMD, MD, and FDF Program Manager Tovah Burstein developed a proposal to study craniofacial FD/MAS patients’ well-being as it relates to their surgical history. More information can be found here.
The second step took place in 2016. During Tier II, the project solicited community input on potential research questions, and built partnerships with researchers interested in pursuing those questions. In Tier I in 2015, the project sought patient, researcher, and clinician input on the research questions that were most important to them and most urgent to study.
FDF launches the FD/MAS Patient Registry
FDF and NORD launched a cutting-edge study of fibrous dysplasia/McCune-Albright syndrome on October 31, 2016. The study, the FD/MAS Patient Registry, created a platform for patients around the world to share information about FD/MAS. Its purpose is to build an international resource to be used by scientists in future research. As of 2019, more than 900 patients and caregivers had registered in the study and contributed more than 100,000 data points. More information about some of the research projects requesting support from the FD/MAS Patient Registry can be found here.
Study Publishes Findings on Effectiveness of Bone Grafting Surgeries
A study in the Journal of Bone and Joint Surgery established that bone-grafting appeared to have limited value in treating fibrous dysplasia and McCune-Albright syndrome. This study, conducted at the National Institutes of Health, was partially supported by a grant from the Fibrous Dysplasia Foundation. It followed patients with polyostotic fibrous dysplasia over an average of 20 years. Read the full article here.