Today marks
the fifth international Rare Disease Day, an annual event aiming to raise
awareness for rare diseases and improve access to treatment and support for
individuals with rare diseases and their families.
On this day, the theme is "Solidarity" and hundreds of patient
organisations from over 40 countries worldwide are involved in
awareness-raising activities centred around the slogan “Rare but strong
together”.
Although the diseases are rare, rare disease patients are numerous. In the EU
alone, up to 30 million people may be affected by one of the 6000 to 8000 rare
diseases in existence.
One of the main challenges faced is the lack of scientific knowledge and information
on rare diseases, often resulting in delays to or incorrect diagnosis. However,
much progress has been made in implementing a more comprehensive approach to
rare diseases in terms of public health policies and international cooperation
of clinical and scientific researchers.
In a video interview for Rare Disease Day, Ségolène Aymé, Editor-in-Chief of
Orphanet Journal of Rare Diseases, discusses the importance of the role of
patient organisations in clinical research in helping to collect data and also
defining the final research questions that should be addressed in the interests
of patients.
Orphanet Journal of Rare Diseases, the official journal of Orphanet, supports
this initiative in providing an open access forum for increasing knowledge on rare
diseases for the benefit of patients and their families, as well as assisting
professionals and researchers in the field.
Liz Bal
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