Everyone in the rare disease community who watched IBM’s “Watson” computer perform on “Jeopardy” early this year probably started to wonder about the potential of “Watson-like” systems to assist doctors in accelerating the accurate diagnosis of rare and unusual medical disorders — one of the first and most critical steps in assuring quality of care. read more >
The terms risk, benefit, effectiveness, and safety are key to the approval of all new medical treatments (and of previously approved treatments for new uses). However, there is a vast divide between the concepts of relative risk and relative benefit (for a well defined group of patients) and the concepts of effectiveness and safety. The distinctions between these concepts are particularly important in the world of rare diseases. read more >
I got a message just this morning telling me that the evolving Patient Centered Outcomes Research Institute (PCORI) is still looking for a wide variety of “non-scientist stakeholders,” including patients, caregivers, and advocacy group representatives, to act as reviewers of research grant applications submitted to PCORI in response to their recent funding announcements. read more >
In an extraordinary signal of the progress that is being made to find treatments for some types of rare disorders, an advisory committee to the U.S. Food and Drug Administration (FDA) has recommended approval this week for not just one but two new drugs to treat homozygous familial hypercholesterolemia (HoFH).