Rare Disease
A disease whose prevalence falls below a defined threshold, such as the European Union definition of fewer than 5 cases per 10,000 people. Approximately 7,000 rare diseases are known worldwide; most lack specific treatments and have long diagnostic periods, and patients frequently experience a diagnostic odyssey.
Timeline (last 90 days)
Rare diseases generally refer to diseases with a prevalence below a certain threshold (e.g., the EU definition of fewer than 5 cases per 10,000 people); about 7,000 are known worldwide, most lack effective treatment, and the diagnostic period is long.
Real patient images are extremely unevenly distributed across hundreds of diseases: a common syndrome may have hundreds of images, while a rare disease may have only a handful of cases.
Rare disease patients require an average of 7 years and consultations with 8 physicians before receiving a diagnosis.
There are approximately 300 million rare disease patients worldwide, of whom about 80% are caused by genetic factors, yet currently fewer than half can obtain a definitive molecular diagnosis.
There are approximately 350 million rare disease patients worldwide, 80% of whom are caused by genetic factors, with more than 7,000 types of rare diseases.
Rare disease patients require an average of 7 years and consultations with 8 physicians before receiving a diagnosis, and 50–70% of variants are variants of uncertain significance (VUS).
All Facts (6)
Rare diseases generally refer to diseases with a prevalence below a certain threshold (e.g., the EU definition of fewer than 5 cases per 10,000 people); about 7,000 are known worldwide, most lack effective treatment, and the diagnostic period is long.
50%UnverifiedReal patient images are extremely unevenly distributed across hundreds of diseases: a common syndrome may have hundreds of images, while a rare disease may have only a handful of cases.
50%UnverifiedRare disease patients require an average of 7 years and consultations with 8 physicians before receiving a diagnosis.
50%UnverifiedThere are approximately 300 million rare disease patients worldwide, of whom about 80% are caused by genetic factors, yet currently fewer than half can obtain a definitive molecular diagnosis.
50%UnverifiedThere are approximately 350 million rare disease patients worldwide, 80% of whom are caused by genetic factors, with more than 7,000 types of rare diseases.
50%UnverifiedRare disease patients require an average of 7 years and consultations with 8 physicians before receiving a diagnosis, and 50–70% of variants are variants of uncertain significance (VUS).
50%