On Rare Disease Day IOF calls for continued research into rare skeletal diseases

2015 Rare Diseases Day
The International Osteoporosis Foundation (IOF) supports research efforts on rare disorders which affect millions of people worldwide, yet suffer from misdiagnosis and neglect on many different levels.

According to the National Institute of Health there are more than 6,000 rare disorders that affect approximately 30 million people in the USA and 27-36 million people in the EU alone. Almost half of these diseases affect children and they are characterized by a broad diversity of signs and symptoms. As a result, people with rare diseases often remain undiagnosed or misdiagnosed.

The diseases can be complex, severe, degenerative, and chronically debilitating – posing immense challenges for the sufferers and their families. Usually there is limited availability or poor access to treatment and services. This means that family members may be the primary source of support and care for their loved ones. The Rare Disease Day 2015 theme ‘Living with a Rare Disease’ thus pays tribute to the millions of parents, siblings, spouses, family members and friends whose daily lives are affected and who are living hand-in-hand with rare disease patients.

Skeletal Rare Diseases such as osteogenesis imperfecta, juvenile Paget’s disease or osteopetrosis, are only three of the more well-known rare skeletal diseases that affect patients worldwide. There are also several other rare disorders, such as Gaucher’s Disease, hypoparathyroidism, and hypophosphatasia with important bone complications that need to be brought to the attention of healthcare professionals and the public. Altogether more than 400 developmental abnormalities of the skeletal system have been identified. The IOF Working Group on Skeletal Rare Diseases is currently preparing a comprehensive taxonomy of the known rare metabolic skeletal diseases. This classification will help in the development of common and shared diagnostic and therapeutic pathways for these patients as well as in the creation of international registries of skeletal rare diseases.

As Chair of the IOF Committee of Scientific Advisor Working Group on Skeletal Rare Diseases Professor Maria Luisa Brandi MD, Professor of Endocrinology and Metabolic Diseases at the University of Florence, Italy, states,

Genetic disorders specifically involving the skeletal system represent a significant portion of the recognized rare diseases. By marking this day we hope to raise awareness of these devastating, yet neglected, rare skeletal diseases. In particular, it is essential that more resources are invested in research. As investigators, we can move forward by working hand-in-hand across disease areas to better understand the pathology of these diseases, and hopefully to open new avenues for therapeutic interventions.”

‎IOF CEO Judy Stenmark added,

IOF is pleased to contribute to progress in rare and orphan diseases through its support of skeletal rare disease research. Rare Disease Day is also an opportunity for us to voice our solidarity with all rare disease stakeholders worldwide as they advocate for the treatments, care, resources and services needed by patients with rare diseases.”

About the IOF Working Group on Skeletal Rare Diseases
This International Osteoporosis Foundation (IOF) scientific working groups seeks to investigate skeletal rare disorders and skeletal complications in non-skeletal rare disorders. It’s objectives are to mentor and share knowledge; find networking opportunities, develop bone-related projects, and initiate advocacy activities by integrating skeletal rare diseases into the Rare Disease Community. The Working Group is supported by an independent educational grant from Shire.

Read about skeletal rare diseases and the Skeletal Rare Disease Working Group

About Rare Disease Day
Rare Disease Day raises awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives. Since Rare Disease Day was first in 2008, thousands of events have taken place throughout the world reaching hundreds of thousands of people and resulting in a great deal of media coverage. The political momentum resulting from Rare Disease Day has contributed to the advancement of national plans and policies for rare diseases in a number of countries.
For more information visit www.rarediseaseday.org