Study underscores the need for more precise rare disease definitions

Study underscores the need for more precise rare disease definitions

Some diseases are like black swans. They occur so rarely that many physicians never encounter them in their clinical practice, complicating efforts to treat them. How many rare diseases are there? According to a new study co-led by University of New Mexico data scientist Tudor Oprea, MD, PhD, no one really knows - and that's a problem, because it's likely that many rare disease patients do not receive appropriate medical care. In a commentary published in Nature Reviews Drug Discovery , a high-impact research journal, Oprea and colleagues from the U.S., Australia, France and Germany point out that as much as 10 percent of the world's population suffers from a rare disease, which translates into hundreds of millions of people. You have thousands and thousands of papers a year related to rare diseases, yet very few translate into cures." Tudor Oprea, professor and chief of the Translational Informatics Division in UNM's Department of Internal Medicine A big part of the problem has to do with definitions, the authors argue, because the inability to reliably diagnose a rare disease hinders researchers' ability to develop treatments for it. In the U.S., the Orphan Drug Act of 1983 defines a rare disease as one affecting fewer than 200,000 people. In the European Union, legislation introduced in 2000 defines it differently: when fewer than one in 2,000 people is affected. And, the authors point out, a disease that is considered "rare" in the general population might be relatively common within a subgroup - examples include Tay-Sachs disease among Ashkenazi Jews and sickle cell disease among people of sub-Saharan African descent. Related Stories



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