About This Page
This page was developed as a resource to researchers who are seeking to enter the field of FD/MAS research. We hope researchers, industry and other important stakeholders will use this overview of the FD/MAS research landscape to form new collaborations and accelerate the rate of progress in the fight to #CureFDMAS.
This page was compiled by layperson staff and volunteers for the Fibrous Dysplasia Foundation. Efforts were taken to be inclusive and accurate. If you have feedback on this page, including if it was useful to you, or if there are recommended changes or additions, please contact firstname.lastname@example.org.
Centers with large cohorts of FD/MAS patients and/or biospecimens
The FD/MAS Patient Registry is a web-based study for patients with fibrous dysplasia or McCune-Albright syndrome. The registry launched in November 2016 and as of July 2017, approximately 500 patients have joined the registry. Researchers can request de-identified datasets, requests for recruiting assistance, or petition for the inclusion of new measures in the registry. Researchers can learn about the registry here. Best points of contact are FDF Board Member and Registry Primary Investigator Kiran Yarlagadda, email@example.com and Executive Director Adrienne McBride, AMcBride@fibrousdysplasia.org.
The Skeletal Disorders and Mineral Homeostasis Section of the National Institute for Dental and Craniofacial Research (NIDCR) at the National Institutes of Health (NIH) runs a natural history for patients with polyostotic fibrous dysplasia or McCune-Albright syndrome. The study started in 1998 and has an estimated patient cohort of 300 patients. Resources include medical records, clinical data and a repository of biospecimens from FD/MAS Patients. Best points of contact are Michael Collins and Alison Boyce. Learn more here.
The Centre for Bone Quality at Leiden University Medical Center has a cohort of approximately 300 patients. Learn more about that center here. Best point of contact is Natasha Appelman-Dijkstra.
The Institut national de la santé et de la recherché medical (INSERM) at Universite de Lyon has medical records and clinical data on approximately 400 patients, with approximately 250 still on follow-up. For more information please visit: http://www.lyos.fr/. Best point of contact is Roland Charpurlat.
Rudy Study is a study of rare diseases of the bones, joints and blood vessels based in the United Kingdom. One of the diseases included in that study is FD/MAS. The study links medical records, clinical data, donated biospecimens, and patient-reported outcomes information for enrolled participants. An estimated 100 patients with FD or MAS are currently participating in the RUDY Study. Learn more here. Best point of contact is Kassim Javaid.
Animal Model Studies and Other Reagents
Animal Model Studies:
Over the last twenty years, several animal models have been developed. For a relatively recent, peer-reviewed article on clinical and translational perspectives that reviews published mice, we recommend this Robinson et al. review article.
Under the leadership of the late-Paolo Bianco, and now under the leadership of Mara Riminucci, several animal lines have been developed at Sapienza University of Rome.
- Bianco et al. (1998) describes a mouse model created through marrow transplant that was instrumental to discovering the necessity of both normal and mutant cells in the development of FD lesions.
- Saggio et al. (2014) describes lines of mice that express the Gsα(R201C) mutation constitutively and reproduce a replica of the human bone pathology in mice of over 1 year.
- Remoli et al. (2015) describes generation of mice expressing Gsα(R201C) selectively in mature osteoblasts using the 2.3kb Col1a1 promoter. While this line does not reproduce human FD, authors used the mice to investigate the role of osteoblasts in the formation of FD lesions.
- Following the award of Million Dollar Bike Ride funding to the Riminucci Lab in 2016 and 2017, FDF anticipates publication of additional strains.
Edward Hsiao and colleagues at University of California San Francisco have published several animal model studies.
- Hsiao et al. (2008) describes use of “Rs1,” an engineered G protein-coupled receptor with constitutive Gs signaling, to evaluate the temporal and skeletal effects of Gs signaling in murine osteoblasts.
- Hsiao et al. (2010) describes use of a tetracycline-inducible system in the ColI(2.3)+/Rs1+ mouse model to control the timing of Rs1 expression, which authors describe as a powerful tool for investigating the effects of continuous Fs-G protein-coupled receptor signaling on bone growth and remodeling.
Yingzi Yang of Harvard Medical School has created a mouse model with loss of GNAS. Overactive GNAS signaling is the root cause of FD/MAS.
Khan et al. (2016) This study investigated the cellular and molecular mechanisms underlying FD and tested its potential treatment by establishing a mouse model in which the human FD mutation (R201H) has been conditionally knocked into the corresponding mouse Gnas locus.
- Regard et al. (2013) describes the mouse model with loss of GNAS, including relevance to fibrous dysplasia.
- Investigations are ongoing. For more information, visit NIH Reporter or the Yang Lab website.
J. Silvio Gutkind of University of California San Diego was awarded funding in 2016 to develop a next-generation mouse model that rapidly manifests the FD/MAS phenotype. Click below for Dr. Gutkind’s public remarks to the Fibrous Dysplasia Foundation.
- Dr. Gutkind’s remarks following the funding announcement.
- Dr. Gutkind’s mid-project update for the patient community.
- For more information about the Gutkind Lab, click here.
In 2012, the Fibrous Dysplasia Foundation contributed funding to Murat Bastepe toward the development of a transgenic mouse model in which Gsa-R201H can be expressed conditionally. A model has been generated. See below for a summary of Bastepe Lab research projects and contact information.
- 2016 ASBMR Annual Meeting Abstract from Bastepe Lab fellow Vijayram Reddy Malladi.
- For more information about the Bastepe Lab, click here.
Bhattacharyya et al. (2014) describes the development of an assay system that was ultimately used for a small molecule library high-throughput screening.
Clinical Fellow Kelly Lee Wentworth at University of California San Francisco is developing a human pluripotent stem cell model to assist with investigation of the signaling pathways that result in FD/MAS.
Dedicated Funding for FD/MAS Research:
In partnership with the Orphan Disease Center at University of Pennsylvania, the Fibrous Dysplasia Foundation offers seed grants annually. Letters of Intent (LOIs) are typically due in late summer. Email firstname.lastname@example.org to request alerts when funding becomes available. To check for current information, visit http://www.med.upenn.edu/orphandisease/rare-disease-overview.html.
Researchers investigating fibrous dysplasia have received extramural funding from a variety of NIH institutes and programs. Depending on an investigator’s research interests, the Fibrous Dysplasia Foundation encourages researchers to review funding opportunities from NIDCR, NIAM, NIDDK, NCATS. NIDCD, NEI, NIDCD, or other relevant NIH Institutes/Centers. In the past, researchers studying FD/MAS have received R01, R15, R21, R56, F32 and other forms of extramural funding from NIH Institutes/Centers.
Rare Disease Research Funding :
There are a number of grant programs that specifically seek to fund research on rare diseases.
- The Patient-Centered Outcomes Research Institute (PCORI) has a special interest in funding research on rare disease comparative effectiveness research, and programmatic activities to improve the capacity of rare disease communities to conduct more powerful, patient-centered comparative effectiveness research. PCORI funding was instrumental previous FD/MAS projects, such as steering patients and families to the online portal of the FD/MAS Patient Registry.
- Research projects with Canadian collaborators, or that are Canadian-led are eligible for the Rare Disease Foundation’s Microgrant program.
- Findacure and CuresWithinReach are nonprofits that fund drug repurposing/repositioning research, often in coordination with each other.
- The US FDA Office of Orphan Products Development funds development of pediatric devices. For more information on the network of consortia to deliver expert advising and support services to innovators of children’s devices, click here.
- Fondazione Telethon in Italy has a special interest in funding research on rare genetic diseases including FD/MAS. Researchers working in public or private non-profit Italian research institutes are eligible to apply.
Active Research Labs
View FD/MAS Research Labs in a full screen map