The poor diagnosis of rare diseases: Overcoming deficits in information, awareness, and understanding
Patients with rare diseases must often wait many years for a diagnosis—a quarter of patients wait over 4 years to be diagnosed, while 50% of patients must live with no accurate diagnosis. Why is this, and can it be improved? In this installment of our Rare Diseases Series, we will discuss the broad challenges faced by the rare disease community across the world. A significant part of the problem is the lack of awareness among the medical and scientific community, but there are also obstacles put up by medical insurance companies and a broad failure in the public domain to appreciate the hurdles faced by patients with rare diseases. Being without a diagnosis can impact a patient’s physical, mental, and emotional well-being, while receiving an accurate diagnosis can allow the patient and their family to move forward with a focus on managing future challenges.
This webinar is free will last for approximately 60 minutes.
Or listen it as a podcast:
With:
William A. Gahl, M.D., Ph.D. (National Institutes of Health, Bethesda, MD)
Jean-Louis Mandel, Ph.D. (The French Foundation for Rare Diseases, Paris, France)
Anne O’Donnell-Luria, M.D., Ph.D. (Broad Institute and Boston Children’s Hospital, Boston, MA)
Sean Sanders, Ph.D. (Moderator ; Science/AAAS, Washington, DC)