By their nature, rare diseases are difficult to detect because of their low overall occurrence in most populations. Improving identification and detection of these disorders, particularly early in the life of the patient, can have profound effects on the course of the disease and the quality of life of the patient and their family. This webinar will examine methods for detecting patients with rare diseases, particularly those with underlying genetic causes, explained in plain language. Our expert panel will describe the benefits and limitations of genetic testing, recent advances, and new technologies, including how developments in artificial intelligence might help uncover hidden rare diseases. Only a decade ago it cost a billion dollars to conduct a full genomic analysis; now this can be done for about $1,000. But how useful and actionable are the results? The variety of genetic tests available provide an array of information that can be confusing to the general population and medical practitioners alike. Tune in to learn how and why genetic testing is done, how to interpret the results, and what impact these results can have on families and patients managing a rare disease.
Marshall Summar, M.D. (Children’s National Hospital, Washington, DC)
Cynthia Tifft, M.D., Ph.D. (National Institutes of Health, Bethesda, MD)
Jimeng Sun, Ph.D.(University of Illinois, Urbana-Champaign, Champaign, IL)
Helena Kääriäinen, M.D., Ph.D. (Finnish Institute for Health and Welfare, Helsinki, Finland)
Sean Sanders, Ph.D. (Science/AAAS, Washington, DC)
This podcast is adapted from a webinar organized by Science magazine, with the support of Fondation Ipsen.