The plight of patients with rare diseases is a critical unmet need of patients in health- care. The statistics are frightening; there are 7000 rare diseases in the world that affect 350,000,000 people. One in eleven Americans has a rare disease. Three-quarters of patients with rare diseases are children and only half of patients receive an accurate diagnosis. The average delay for a patient to receive a diagnosis with a rare disease is 1 1/2 years. It is deeply concerning that one in four patients with a rare disease waits four years for an accurate diagnosis. There is an urgent need to communicate knowledge and expertise in the field of rare disease detection.
The journal Science (American Association for the Advancement of Science) in collabo- ration with Fondation Ipsen delivers international science webinars for the general public. In 2021 these webinars focused on improving the detection of rare diseases. The Rare Disease Gazette is a magazine that broadcasts these discussions.