IOF launches new resource on rare skeletal disorders

rare disease day 2016
International Osteoporosis Foundation hosts a new source of detailed information on the main rare diseases that affect the skeleton, outlined in four subcategories.

Today, on Rare Diseases Day, the International Osteoporosis Foundation (IOF) has launched a new informational resource on rare skeletal disorders.

Genetic disorders involving the skeletal system arise through disturbances in the complex processes of skeletal development. The new online resource gives detailed information about more than 80 of the main rare diseases that affect the skeleton, outlined in four subcategories based on the alterations: altered osteoclast, osteoblast or osteocyte activity, altered proteins from the bone matrix, or altered activity of the calciotropic hormone.

> View IOF Skeletal Rare Disease web resource

Almost 400 different forms of such skeletal abnormalities have been identified so far. Because of their diverse signs and symptoms, these rare disorders pose a diagnostic challenge even to seasoned specialists, let alone to the average healthcare professional. Prof. Maria Luisa Brandi MD, Professor of Endocrinology and Metabolic Diseases at the University of Florence, Italy, and Chair of the IOF Working Group on Skeletal Rare Diseases stated:

Genetic disorders specifically involving the skeletal system represent a significant portion of the recognized rare diseases. With this new resource we hope to provide accessible information that helps raise awareness and broaden knowledge of these afflictive, yet neglected ‘orphan’ disorders among healthcare professionals. Although these diseases are rare and therefore suffer from lack of attention, we must always keep in mind that rare disease patients are numerous.”

The IOF Working Group on Skeletal Rare Diseases recently published a comprehensive taxonomy of the known rare metabolic skeletal diseases. It is hoped that, together with the taxonomy, the new online resource will also help facilitate research to improve understanding of the pathology of these diseases. The ultimate goal is to develop common diagnostic and therapeutic pathways that benefit rare skeletal disease patients worldwide.

IOF CEO Judy Stenmark said,

Rare Disease Day is a fitting occasion for IOF to launch a new resource that both informs and helps promote progress in our knowledge of rare diseases. On this special day, we also wish to express our solidarity with all rare disease stakeholders worldwide as they advocate for the treatments, care, and services needed by patients with rare diseases. ”

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. In 2016 the theme is Patient Voice - Join us in making the voice of rare diseases heard