By David A. Kvancz, MS, RPh, FASHP

ABSTRACT

There are more than 7000 known rare diseases that affect a worldwide patient population that, if aggregated together, would be the third most populous country in the world. However, timely and accurate diagnosis, the use of effective treatment and maintenance therapies, and known prognoses for these patient populations are often challenging due to a number of factors. These challenges include access to, and validation of, clinical knowledge for a timely and effective diagnosis, treatment and maintenance therapies, and long-term prognosis due to very limited patient populations and individual provider expertise within each disease state.

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