A disease or disorder is defined as rare in Europe when it affects less than 1 in 2000, whereas in USA, disease or disorder is rare when it affects fewer than 200,000 at any given time. About 80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative. About 7,000 types of rare disease are currently known to exist. Moreover, approximately 5 new rare diseases are identified each week, so we can expect the number of affected individuals to grow.
On average, it takes about 5 years for a rare disease to be correctly diagnosed. The rarity of some conditions signifies less probability of particular doctor to have never encountered the symptoms. Moreover, many rare diseases include similar symptoms, often leading to misdiagnosis, which delays appropriate disease management.
Advances in Rare Diseases is an open access journal that publishes original research and timely reviews on recent advances in the understanding of the processes responsible for and associated with rare diseases.
Topics of interest include, but are not limited to, genetics, gene expression, epidemiology, screening, diagnosis, prevention, treatment, health economics, regulatory issues and novel clinical findings.
“I am delighted to play a central role in facilitating the expression of new research findings and opinions regarding rare diseases. Not only are many millions of people afflicted by the vast number of documented rare diseases, but the impact on their lives is often severe. Indeed, many rare diseases have proven to be fatal without treatment, and there is therefore an urgent need for therapeutic developments in this area of medicine. Fortunately, new genome sequencing technologies have permitted rapid expansion of the molecular and mechanistic understanding of rare genetic diseases, thereby paving the way to new treatments and therapeutics. Research of rare diseases is therefore a most promising area of biomedical research, as it is likely to deliver major advances at multiple levels in coming years.”
Robin M. Scaife, PhD, Editor-in-Chief