How popular is a contemporary public health strategy to treating rare diseases?

 Research on the burden of disease is one of the few types of public health research that strongly encourages public health action. This study employs accepted metrics to estimate actual or possible losses that populations may incur as a result of illnesses and accidents. Standard measurements might be straightforward (like mortality) or complex. The burden of disease has been calculated for roughly 300 disorders that affect millions of people worldwide, despite some limitations in the quantity and quality of data at a global level. This was done in order to inform the development of public health policy and the design of health systems. However, these initiatives have mostly focused on relatively common illnesses and only a few uncommon diseases that fall under the category of "congenital abnormalities."

In general, a disease is deemed rare when it affects fewer than 7 people out of 10,000 in a given community, although there is no universally accepted definition of what constitutes a rare disease. In the world, between 5,000 and 8,000 rare diseases have been discovered, and about 80% of them are hereditary in nature. Estimates of the public health burden of rare diseases remain inconsistent despite the presumed vast number of adults and children affected by these uncommon life-threatening or debilitating ailments. It's possible that rare diseases are essentially invisible to many public health experts due to their extreme fragmentation.

Let's now assume that we can draw attention to the burden of uncommon diseases on a significant scale.

What will happen to public health after that and should society do in response?

The societal and public health responses to rare diseases have been significant over time, albeit they are still insufficient. We first describe ongoing, extensive initiatives that collectively address rare diseases, such as newborn screening, legislation, and the creation of national plans or strategies, before discussing how to make these responses better.