One in 10 people in the United States has a rare disease. Although tremendous progress has been made to identify and understand the 7,000 known rare diseases, more than 95 percent of rare diseases still have no FDA-approved treatment. And even when treatments exist, delays in diagnosis lead to unnecessary delays in treatment.
At the 2020 Milken Institute Future of Health Summit session, Easing the Burdens of Rare Disease: Accelerating Diagnosis, experts in the field discussed how to accelerate a rare disease diagnosis.