What’s the plan? From detection to diagnosis to treatment of rare diseases

If our ability to test for and detect rare diseases can be significantly
improved, a predictable future challenge will be that patients are
diagnosed but there is no available means or expertise to provide
optimal treatment and ongoing support. In this webinar, we will discuss
strategies for solving this issue, including how data collected by
international consortia in diverse settings might inform possible
solutions, and how these solutions might be implemented.

With:

Domenica Taruscio, M.D. (National Centre for Rare Diseases, Rome, Italy)

Tim Guilliams, Ph.D. (Healx, Cambridge, UK)

David A Pearce, Ph.D. (Sanford Health, Sioux Falls, SD)

Marta Mosca, M.D., Ph.D. (University of Pisa, Pisa, Italy)

Sean Sanders, Ph.D. (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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