It is estimated that 400 million people suffer from a rare disease globally, with approximately 7,000 distinct types of rare and genetic diseases identified. On average, it takes eight years before rare disease patients receive an accurate diagnosis and even then, the majority of those diagnosed lack access to approved therapies for targeted treatment. Many of these rare diseases affect children, with irreversible debilitating and painful impact that is often fatal. Thus, it is essential to identify patients early and connect them to treatment as soon as possible to improve patient outcomes.
The socioeconomic impact of rare diseases: An analysis of the evidence in middle-income countries
Worldwide, it is estimated that over 300 million people are living with one or more of the 6,000 to 8,000 identified rare conditions, yet the impact of rare...