The poor diagnosis of rare diseases

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.

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)

This podcast was adapted from a webinar launched by Science Magazine with the support of Fondation Ipsen.

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