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. There is no submission/publication fee and all interested readers can freely access the journal content online without the need for a subscription.
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