Today is Rare Disease Day, which is the globally coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease.
A disease or disorder is defined as rare in Europe when it affects less than 1 in 2000 in Europe or a disease that affects fewer than 200,000 people in the U.S. (other parts of the world will have differing definitions).
Globally, there are more than 6000 rare diseases. The majority of these are genetic in origin (directly caused by changes in genes or chromosomes), and they are often chronic and life-threatening. Sometimes a rare disease is referred to as an orphan disease, is any disease that affects a small percentage of the population.
Since its creation in 2008, Rare Disease Day has played a critical part in building an international rare disease community that is multi-disease, global, and diverse– but united in purpose. It is observed every year on 28 February (or 29 in leap years—the rarest day of the year).
Rare Disease Day was set up and is coordinated by EURORDIS and over 65 national alliance patient organisation partners. EURORDIS-Rare Diseases Europe is a unique, non-profit alliance of 988 rare disease patient organisations.
The objective of Rare Disease Day is to provide a focal point that enables rare diseases advocacy work to progress on the local, national and international levels. This is also about raising awareness for the 300 million people worldwide living with a rare disease, their families and their carers.
Despite many cases of funding limitations there are research breakthroughs. For example, research published in December 2021 shows that examining genetic mutations in individuals with severe schizophrenia can improve the ability to detect disease-associated rare genetic variants. This appears in Proceedings of the National Academy of Sciences, titled “High-impact rare genetic variants in severe schizophrenia.”
However, according to, Dr. Anne R. Pariser (Director of the Office of Rare Diseases Research, at the NIH’s National Center for Advancing Translational Sciences) rare diseases generally receive limited research funding. Dr. Pariser says: “Rare diseases often represent deviations from typical cellular functions that may otherwise go unnoticed or un-studied when working properly and can lead to important biological insights and therapeutics.”
Limitations on the funding front explains why raising awareness about rare diseases each year remains an important endeavour.
In recent years, assessment has improved through scientific advance. For example, Whole Genome Sequencing from a single blood test picks up 31 percent more cases of rare genetic disorders than standard tests. The effect of this, according to University of Cambridge researchers, is to shorten the ‘diagnostic odyssey’ affected families experience and providing huge opportunities for future research. Also of benefit is the development of an international sequence database called Genome Aggregation Database (gnomAD), which aids researchers in the quest for medical treatments and prevention.
