SKELETAL RARE DISORDERS

Skeletal Rare Diseases such as osteogenesis imperfecta, juvenile Paget’s disease or osteopetrosis, are only three of the more than 400 developmental abnormalities of the skeletal system. Being both rare and complex, such genetic diseases pose a great challenge in terms of diagnosis, particularly when the patient has a mild form of the disorder. Through the IOF Academy of Rare Skeletal Diseases, IOF aims to raise awareness and promote education, and further research into rare skeletal disorders .

ATLAS OF RARE GENETIC METABOLIC BONE DISORDERS


Online Atlas which classifies more than 90 rare genetic metabolic bone disorders according to their metabolic pathogenesis.
 

SCIENTIFIC PUBLICATION

 

Masi, L., Ferrari, S., Javaid, M.K. et al. Bone fragility in patients affected by congenital diseases non skeletal in origin. Orphanet J Rare Dis 16, 11 (2021).

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Masi, L., Agnusdei, D., Bilezikian, J. et al. and the Skeletal Rare Diseases Working Group of the International Osteoporosis Foundation. Taxonomy of rare genetic metabolic bone disorders. Osteoporosis International (2015). DOI 10.1007/s00198-015-3188-9

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IOF SKELETAL RARE DISEASE ACADEMY & AWARDS

Award

IOF SKELETAL RARE DISEASE ACADEMY

IOF Skeletal Rare Disease Academy’s mission is to advance and disseminate knowledge, and to communicate the importance of diagnosis, management, and support for rare bone diseases.
 

IOF SKELETAL RARE DISEASE AWARDS

The Awards provide a certificate and a grant in recognition of top ranking research abstracts submitted to the World Congress on Osteoporosis, Osteoarthritis & Musculoskeletal Diseases
 

WEBINARS

A PRACTICAL AND CLINICAL APPROACH TO SKELETAL RARE DISORDERS WITH ILLUSTRATIVE CASES

Date: May 18, 2022     Speaker: Dr Manju Chandran

Key learning objectives:

  • To recognise some rare skeletal disorders in adult patients
  • To understand significant points of clinical patterns to be considered for establishing an appropriate diagnosis
  • To learn about optimal management and monitoring of adult patients diagnosed with skeletal rare disorders

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IMPORTANCE OF PHOSPHATE HOMEOSTASIS THROUGHOUT LIFE

Date: December 16, 2021     Speaker: Dr. Gemma Marcucci

Key learning objectives:

  • To review the role of phosphorous and the changing requirements of phosphate throughout life
  • To identify key clinical aspects of HPP and the therapeutic approachesTo recognise the clinical and biochemical features of renal phosphate pathophysiology
  • To describe the diagnostic algorithm and the therapeutic approaches leading to an adequate care pathway for the patient

Kyowa Kirin provided funding through an educational grant but did not have any input into choice of speaker, topic or content of the webinar


HYPOPHOSPHATASIA CURRENT PRACTICE, DIAGNOSIS & MANAGEMENT IN ADULTS

Date: March 18, 2021     Speaker: Prof. Maria Luisa Brandi

Key learning objectives:

  • To learn the background of HPP and its pathological category of skeletal rare disorders
  • To identify key clinical aspects of HPP and the therapeutic approaches
  • To recognise challenges within the development of adequate care management of patients

This webinar was supported by Alexion


SKELETAL RARE DISEASES: THE NEXT FRONTIER FOR THE BONE DOCTOR

Key learning objectives include:

  • Learning about epidemiology of SRD
  • Uncovering the application of common radiological and biochemical methods to manage SRD patients
  • Understanding the role of osteoporosis drugs in SRD
  • Learning about novel drugs specifically developed for metabolic SRD

HYPOPARATHYROIDISM DIAGNOSIS AND ADVANCES IN MANAGEMENT IN 2020

Key learning objectives include:

  • Understand how to diagnose and evaluate hypoparathyroidism.
  • Recognize the goals of therapy as well as the risks, benefits and limitations of pharmacologic intervention.
  • Understand how to manage hypoparathyroidism during pregnancy.
  • Gain knowledge regarding appropriate initiation and cessation of PTH replacement.