The International Osteoporosis Foundation (IOF) has announced the launch of a new initiative to promote awareness, provide education and training, and support research advances related to skeletal rare diseases (SRD). The announcement is made prior to the opening of the World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases, which is being held virtually from August 20-22, 2020.
Genetic disorders specifically involving the skeletal system represent a significant portion of the known rare diseases. Altogether, more than 430 genetic disorders of the skeleton have been identified so far, including the more commonly known osteogenesis imperfecta, Gaucher’s disease, fibrous dysplasia, hypophosphatasia, and X-linked hypophosphatemia, among others.
Professor Nicholas Harvey, Chair of the IOF Committee of Scientific Advisors and Co-Chair of the new initiative, commented:
“One of IOF’s key missions is to promote awareness and understanding of rare bone disorders, so that healthcare professionals who are not specialists in these conditions are better able to identify and treat people suffering from these, often difficult to recognize, disorders. With increased education and training, healthcare professionals and their patients will be able to benefit from the rapid and exciting progress being made in the field. This includes new diagnostic strategies and promising targeted therapies that can vastly improve the lives of patients around the world.”
The IOF SRD Academy’s mission is to advance and disseminate much needed knowledge in the field, and communicate the importance of diagnosis, management and support for rare diseases. Areas of activity will include scientific publications, development of educational programmes and training courses, and dissemination of informational resources for patients and healthcare professionals. In addition, the Academy will present awards to recognize and promote research excellence among young scientists in the field.
The IOF SRD Academy is led by Co-Chairs Professor Nicholas Harvey (Chair of the IOF Committee of Scientific Advisors) and Professor Maria Luisa Brandi (SRD Academy Convener) and includes the following expert members: Dr. Manju Chandran (Singapore), Prof. Roland Chapurlat (France), Prof. Serge Ferrari (Switzerland) and Prof. Kassim Javaid (UK).
The launch of the SRD Academy underlines IOF’s longstanding commitment to advancing knowledge of skeletal rare diseases, and builds upon the extensive body of past work carried out by the former IOF Skeletal Rare Disease Working Group. This includes the publication of the ‘Taxonomy of rare genetic metabolic bone disorders’ with a related online atlas that describes more than 90 rare genetic metabolic bone disorders according to their metabolic pathogenesis, and a fact-sheet on X-Linked Hypophosphatemia (XLH) . As well, educational webinars were held and a series of successful training courses were organized in Geneva, St Petersburg, Tel-Aviv and Singapore.
Professor Maria-Luisa Brandi, Co-Chair of the SRD Academy added:
“With this new initiative, IOF will work to raise awareness and increase knowledge of these disabling, yet neglected ‘orphan’ disorders primarily among healthcare professionals, but also among the general public. It is always worthwhile remembering that, although these diseases are rare and therefore suffer from lack of attention, there are many such disorders, so millions of people are affected worldwide.”
The IOF SRD Academy is financially supported by Kyowa Kirin, which has no input into the Committee, abstract selection or awards.
- Masi et al and the Skeletal Rare Diseases Working Group of the IOF (2015) Taxonomy of rare genetic metabolic bone disorders. Osteoporos Int. 2015 Oct;26(10):2529-58.
- Skeletal Rare Disorders Atlas: https://www.osteoporosis.foundation/health-professionals/skeletal-rare-disorders
- X-Linked Hypophosphatemia (XLH) Fact Sheet
The International Osteoporosis Foundation (IOF) is the world's largest nongovernmental organization dedicated to the prevention, diagnosis and treatment of osteoporosis and related musculoskeletal diseases. IOF members, including committees of scientific researchers as well as 260 patient, medical and research societies, work together to make fracture prevention and healthy mobility a worldwide heath care priority. https://www.osteoporosis.foundation @iofbonehealth