Rare diseases are defined as those that affect less than 1 in 200,000 people in the US. While this might be a minority of the population, together, all rare diseases, affect around 5% of the population at any given time. This poses a significant risk to human health that is not adequately supplemented with diagnosis or treatment paradigms. The World Rare Diseases day celebrated each year on the last day of February, sheds light on the need for more focus on these rare diseases calling for action on all aspects including understanding disease mechanisms, diagnosis, treatment and even simply the reporting of rare diseases to shed light on the real problems.
This month, following the World Rare diseases day on the 28th of February, BMC Series presents a focus issue collating recent research on all angles of rare diseases published within our journals.