A significant proportion of rare diseases specifically involves the skeletal system, with more than 430 genetic disorders of the skeleton identified to date. These include disorders such as osteogenesis imperfecta, Gaucher’s disease, fibrous dysplasia, hypophosphatasia, osteopetrosis, and X-linked hypophosphatemia, among others. Although rare, on a global scale, these skeletal disorders affect the lives of millions of people, and their families and carers.
On Rare Disease Day, the International Osteoporosis Foundation (IOF), calls on individuals and organizations to support, through the petition or endorsement, the IOF Global Patient Charter which addresses the rights of people with bone disorders, including skeletal rare diseases. With the Charter, we call for patients' rights to timely diagnosis; effective intervention and care; involvement and choice in management plans; and support to ensure active, independent living. IOF President Cyrus Cooper stated:
"Rare diseases suffer from lack of attention at many levels, and pose enormous challenges to patients and their families. IOF marks Rare Disease Day as an occasion to call on health authorities to support research as well as improved patient care, including through greater access to diagnosis, novel treatments, and long-term support."
Recent advances in researchers’ understanding of the mechanisms of rare bone diseases, and, critically, in the availability of diagnostic methods and effective treatments, offer new hope for many people with rare skeletal diseases. But much more needs to be done as many people with rare disorders are still struggling to find proper diagnosis and access to care, as well as the long-term support needed. IOF is therefore committed to providing healthcare professionals with training and resources so that new advances can be effectively translated into improved diagnosis and care for patients. This commitment is exemplified by the launch of the Skeletal Rare Disease (SRD) Academy, an initiative to promote awareness, provide education and training, and support research advances related to skeletal rare diseases (SRD). Since 2020, the SRD Academy has presented the IOF Skeletal Rare Diseases Academy Awards at the annual IOF-ESCEO World Congress in order to recognize research excellence.
As well, the IOF website hosts a special section dedicated to Skeletal Rare Disorders. This includes an online taxonomy ‘Atlas of Rare Genetic Metabolic Bone Disorders’, which classifies more than 90 rare genetic metabolic bone disorders according to their metabolic pathogenesis. The Atlas is enhanced by a recent paper, ‘Bone fragility in patients affected by congenital diseases non-skeletal in origin’ that has been published on behalf of the IOF Working Group. Other resources include webinars on phosphate metabolism, hypophosphatasia, hypoparathyroidism, and epidemiology of skeletal rare disorders.
Supporting Rare Disease Day
There are many ways you can support Rare Disease Day. As well as signing the IOF Global Patient Charter, you can support Rare Disease awareness by downloading resources from the Rare Disease Day website and sharing the messages on your social media, taking part in an event near you, or making a donation to the charity of your choice. We can also recommend a special Rare Disease Day edition of ‘Rare Revolution Magazine’ which will provide you with inspiring insights from many rare disease organizations and experts from around the world.
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About Rare Disease Day
Rare Disease Day takes place on the last day of February each year. Its main objective is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives. Since Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008, thousands of events have taken place throughout the world reaching hundreds of thousands of people worldwide.
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 include scientific experts as well as 300 patient societies and medical and research organizations in all regions of the world. Together, the IOF network works to make fracture prevention and healthy mobility a global health care priority. https://www.osteoporosis.foundation firstname.lastname@example.org @iofbonehealth