Making Health Happen

There are few public health activities that trigger stronger calls to action in public health than research into the burden of disease. Research into the burden of diseases uses standard public health measures to quantify actual and/or potential losses that populations may experience due to the presence of diseases and injuries. While efforts of estimating and monitoring the burden of diseases on a global scale are advancing and aiding in informing the design of public health programs, policy, and systems, most efforts are directed at the approximately 300 relatively "common conditions" that are known to most. So, what about the more rare diseases? There are over 8,000 rare diseases that have been identified around the world, with approximately 80% of them having a genetic origin. It is estimated that there are approximately 300 million people in the world living with rare diseases. With that many affected by rare diseases world wide, it is time to pivot our public health focus from only the common conditions, to the burden that rare diseases have as well. In 2019, the director of the National Center for Advancing Translation Studies (NCATS) at the NIH stated that rare diseases are a real and increasing problem. Many of these patients have healthcare costs that are through the roof or are unable to access healthcare for their condition, yet they and their conditions are essentially invisible. From a public health perspective it is time to expand focus from only the common burdens of disease and bring the invisible to light. Rare diseases are a public health issue.